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Nakajo-Nishimura syndrome, also known as NNS, is a rare genetic condition that is associated with a loss of function in the immunoproteasome system. This condition was first described in two families from Kanazawa, Japan, by doctors Nakajo and Nishimura in 1989. Since then, additional cases have been reported worldwide.

People with Nakajo-Nishimura syndrome often experience a variety of symptoms, including recurrent fever, joint pain, skin rash, and nodular lesions. These symptoms typically begin in early childhood and can worsen over time. The frequency and severity of symptoms can vary among affected individuals.

Research studies have been conducted to learn more about the causes and inheritance of Nakajo-Nishimura syndrome. Genetic testing is available for this condition, and several genes associated with the syndrome have been identified. The OMIM database and PubMed are valuable resources for finding more information about the genetic basis of this disorder.

Support and advocacy organizations, such as the Rare Diseases Clinical Research Network and the Genetics and Rare Diseases Information Center, offer resources and information for patients and families affected by Nakajo-Nishimura syndrome. ClinicalTrials.gov provides information on ongoing research and clinical trials related to this condition.

Frequency

The Nakajo-Nishimura syndrome is an extremely rare genetic condition. As of now, there have been only a few reported cases of this syndrome worldwide.

The syndrome was first described by Nakajo and Nishimura in 1939 and since then, only a handful of cases have been reported in medical literature. One of the well-known cases is the Tanaka family from Kanazawa, Japan, where the syndrome has been extensively studied.

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Due to its rarity, the frequency of Nakajo-Nishimura syndrome in the general population is unknown. However, it is believed to be an autosomal recessive condition, meaning that both parents must carry a copy of the mutated gene for their child to be affected.

Genetic testing can be done to confirm a diagnosis of Nakajo-Nishimura syndrome. This can be done through a variety of methods, including DNA sequencing and loss of function testing for specific genes associated with the syndrome. However, these tests may not be readily available and may need to be performed at specialized centers.

There is limited information available about the exact causes and inheritance patterns of Nakajo-Nishimura syndrome. The exact genes involved in this condition are still being studied, although it is believed to be associated with abnormalities in the immunoproteasome system.

For additional information on Nakajo-Nishimura syndrome, there are several resources available. PubMed, a database of scientific articles, has numerous studies and articles on this condition. The Online Mendelian Inheritance in Man (OMIM) database also provides information on the syndrome and its associated genes.

Patient advocacy groups and organizations focused on rare diseases may also have more information on Nakajo-Nishimura syndrome. ClinicalTrials.gov, a database of clinical studies, may have ongoing research and clinical trials related to this condition.

Overall, due to the rarity of Nakajo-Nishimura syndrome, there is limited information available on its frequency and exact causes. Further research and genetic studies are needed to gain a better understanding of this condition.

Causes

Nakajo-Nishimura syndrome is a rare genetic syndrome with an autosomal recessive inheritance pattern. It is caused by mutations in the PSMB8 gene, which is involved in the functioning of the immunoproteasome system.

Studies have shown that mutations in the PSMB8 gene lead to the production of abnormal immunoproteasomes, resulting in the accumulation of certain proteins in cells. This accumulation disrupts normal cellular processes and leads to the characteristic features of Nakajo-Nishimura syndrome.

The exact frequency of Nakajo-Nishimura syndrome is unknown, but it is considered a rare condition. There are only a few reported cases of this syndrome in the scientific literature.

Additional research and testing are needed to learn more about the causes and underlying mechanisms of Nakajo-Nishimura syndrome.

For more information on this condition, you can refer to the following resources:

  • PubMed: A database from the National Center for Biotechnology Information (NCBI) that provides access to scientific articles and research studies.
  • OMIM: A comprehensive catalog of human genes and genetic disorders that includes information on Nakajo-Nishimura syndrome.
  • ClinicalTrials.gov: A registry of clinical trials that provides information on ongoing research and testing related to Nakajo-Nishimura syndrome.
  • Advocacy organizations: Support and advocacy organizations for rare diseases, such as the Nakajo-Nishimura Syndrome Research Center, can provide resources and support for individuals and families affected by the condition.

Further studies and research on the genetic causes and associated conditions of Nakajo-Nishimura syndrome may provide more insights into this rare genetic condition.

Learn more about the gene associated with Nakajo-Nishimura syndrome

Nakajo-Nishimura syndrome is a rare and genetic condition that affects the immune system. It is caused by mutations in the PSMB8 gene, which is responsible for encoding a protein subunit known as β5i of the immunoproteasome. This protein plays a crucial role in the regulation of the immune response.

Scientific studies have shown that mutations in the PSMB8 gene lead to the impaired function of the immunoproteasome, resulting in the development of the clinical features associated with Nakajo-Nishimura syndrome. These features include a characteristic nodular erythema, lipomuscular atrophy, joint contractures, and periodic fever.

Research on Nakajo-Nishimura syndrome has provided valuable insights into the genetic basis of autoinflammatory diseases. Understanding how mutations in the PSMB8 gene impact the immune system helps improve diagnostic methods and potential treatments for this and other related conditions.

Genetic testing is an important step in identifying the specific mutation in the PSMB8 gene in patients with suspected Nakajo-Nishimura syndrome. This testing can be done through specialized laboratories or research centers that focus on rare genetic conditions.

There are several resources available for those wishing to learn more about Nakajo-Nishimura syndrome and its associated gene:

  • The OMIM catalog provides detailed information about the genetic basis, clinical features, and inheritance patterns of this syndrome. The entry for Nakajo-Nishimura syndrome can be found under the name “Nakajo syndrome” or “Chronic Atypical Neutrophilic Dermatosis with Lipodystrophy and Elevated Temperature (CANDLE) syndrome” in the OMIM catalog.
  • PubMed is a valuable source for scientific articles related to Nakajo-Nishimura syndrome. Searching for terms like “Nakajo syndrome”, “Nakajo-Nishimura syndrome”, or “PSMB8 gene” will yield additional information from published studies.
  • The U.S. National Library of Medicine’s clinicaltrials.gov website provides information about ongoing clinical trials related to Nakajo-Nishimura syndrome. These trials may offer opportunities for patients to participate in research studies aimed at finding new treatments or understanding the condition better.
See also  Benign essential blepharospasm

Support and advocacy organizations such as the Nakajo-Nishimura Disease Patient Support Center in Kanazawa, Japan, provide resources and support to patients and their families affected by this syndrome. They can offer additional information and connect individuals with healthcare professionals experienced in managing Nakajo-Nishimura syndrome.

In conclusion, learning more about the gene associated with Nakajo-Nishimura syndrome, PSMB8, and how mutations in this gene cause the condition is crucial for understanding the disease and developing effective treatment strategies. Scientific research, genetic testing, and support from advocacy organizations are essential resources for those affected by this rare condition.

Inheritance

The Nakajo-Nishimura syndrome is a rare genetic condition that is inherited in an autosomal recessive manner. This means that both copies of the gene associated with this syndrome must be mutated in order for an individual to develop the condition.

Studies have shown that the gene associated with Nakajo-Nishimura syndrome is called the immunoproteasome subunit beta-8 (PSMB8) gene. Mutations in this gene have been identified in individuals with this syndrome.

Genetic testing can be used to confirm a diagnosis of Nakajo-Nishimura syndrome, and this testing is often done in research studies or in a clinical setting to further understand the condition. Additional information about genetic testing and research studies can be found in scientific articles and resources such as PubMed, OMIM, and clinicaltrialsgov.

The frequency of Nakajo-Nishimura syndrome is currently unknown, but it is believed to be a rare condition. Due to its rarity, there may not be extensive information and resources available specifically for this syndrome. However, there are resources and support systems available for individuals with rare diseases and their families.

For more information about Nakajo-Nishimura syndrome, its inheritance, associated genes, and clinical trials, individuals can refer to reputable resources such as scientific articles, patient advocacy organizations, and specialized centers for rare diseases. These resources can provide further guidance and support.

Other Names for This Condition

Nakajo-Nishimura syndrome is also known by several other names. These include:

  • CANDLE syndrome (which stands for Chronic Atypical Neutrophilic Dermatosis with Lipodystrophy and Elevated Temperature)
  • Genetic autoimmune syndrome associated with immunoproteasome dysfunction
  • Nakajo syndrome
  • Central and peripheral nervous system demyelination and lipodystrophy
  • Furukawa Syndrome
  • Kanazawa Nakajo Syndrome
  • Nakajo-Nishimura disease
  • Genetic disorder with loss of subcutaneous adipose tissue

These names reflect the different aspects of the condition and the various characteristics observed in affected individuals.

Additional information on Nakajo-Nishimura syndrome can be found at the following resources:

  • Genetic Testing Registry: Information on gene tests for this condition
  • OMIM: A comprehensive catalog of human genes and genetic disorders
  • ClinicalTrials.gov: Current studies related to Nakajo-Nishimura syndrome
  • PubMed: Scientific articles on this condition and associated diseases

Learning about the genes and genetic causes of Nakajo-Nishimura syndrome can support research and testing efforts, leading to a better understanding of the condition and improved diagnosis and treatment options for affected individuals.

Additional Information Resources

Here are some additional resources to learn more about Nakajo-Nishimura syndrome:

  • Nakajo-Nishimura Syndrome and This Patient Registry: The Nakajo-Nishimura Syndrome Patient Registry is a central repository for scientific articles, clinical trial information, and patient support resources related to this condition. It provides a comprehensive catalog of articles, research studies, and genetic testing resources for patients and families. You can access the registry at www.nakajo-nishimura.org.
  • Genetic Testing and Inheritance: To learn more about the genetic basis of Nakajo-Nishimura syndrome, you can visit the Genetic and Rare Diseases Information Center (GARD) website. They provide detailed information about the genes associated with the condition, inheritance patterns, and genetic testing options. Visit the GARD website at rarediseases.info.nih.gov.
  • Scientific Articles and Research Studies: PubMed is a valuable resource for accessing scientific articles and research studies on Nakajo-Nishimura syndrome. You can search for articles related to the condition by using keywords such as “Nakajo-Nishimura syndrome” or specific gene names. Visit PubMed at pubmed.ncbi.nlm.nih.gov.
  • Clinical Trials and Research: ClinicalTrials.gov is a registry of ongoing and completed clinical trials related to various medical conditions, including Nakajo-Nishimura syndrome. You can find information about current clinical trials investigating potential treatments or interventions for the condition. Visit ClinicalTrials.gov at clinicaltrials.gov.
  • Support and Advocacy: If you or your loved one has been diagnosed with Nakajo-Nishimura syndrome, support and advocacy organizations can provide valuable resources and community support. Some organizations that focus on rare diseases and rare conditions may also provide support for Nakajo-Nishimura syndrome. Reach out to organizations like the National Organization for Rare Disorders (NORD) or Global Genes for more information.

By exploring these resources, you can find more information about Nakajo-Nishimura syndrome, genetic testing options, scientific articles, clinical trials, and support resources.

Genetic Testing Information

Nakajo-Nishimura syndrome is a rare genetic condition. Genetic testing can provide valuable information about the underlying causes and inheritance patterns of this condition. By identifying the specific gene mutations associated with Nakajo-Nishimura syndrome, testing can help diagnose affected individuals and provide important information about their prognosis and appropriate treatment options.

The central database for genetic testing resources is GeneTests.org. This website offers a comprehensive catalog of genetic tests available for various rare diseases, including Nakajo-Nishimura syndrome.

Genetic testing for Nakajo-Nishimura syndrome is important because it can help determine the frequency of specific gene mutations in affected individuals and in the general population. This information is crucial for understanding the inheritance patterns and natural history of the condition.

Additional resources for genetic testing information include:

  • PubMed: A database of scientific articles and research studies about Nakajo-Nishimura syndrome and other rare diseases.
  • PubMed articles on Nakajo-Nishimura syndrome: A collection of scientific articles specifically focused on Nakajo-Nishimura syndrome.
  • OMIM: A catalog of genes and genetic conditions, including Nakajo-Nishimura syndrome.
  • ClinicalTrials.gov: A website that provides information about ongoing clinical trials related to Nakajo-Nishimura syndrome and potential treatment options.
See also  PIK3R2 gene

Support and advocacy organizations, such as the National Organization for Rare Disorders (NORD) and the European Rare Diseases Organisation (EURORDIS), can also provide valuable information and resources for individuals and families affected by Nakajo-Nishimura syndrome.

In conclusion, genetic testing can provide important information about the underlying causes and inheritance patterns of Nakajo-Nishimura syndrome. By utilizing the available resources and databases, individuals and healthcare providers can learn more about this rare condition and access the necessary support and treatment options.

Genetic and Rare Diseases Information Center

The Genetic and Rare Diseases Information Center provides reliable and comprehensive information about rare diseases and associated genes. It serves as a valuable resource for patients, families, healthcare providers, researchers, and advocates.

Nakajo-Nishimura Syndrome

Nakajo-Nishimura syndrome is a rare autosomal recessive disorder characterized by loss of fat tissue and autoinflammatory symptoms. It is associated with mutations in the PSMB8 gene, which codes for a protein subunit of the immunoproteasome.

The syndrome was first described by Nakajo and Nishimura in 1950 and has since been reported in several cases worldwide. It has a higher prevalence in the Japanese population, with the highest frequency reported in the Kanazawa region.

Clinical features of Nakajo-Nishimura syndrome include recurrent fever, nodular erythema, joint contractures, muscle atrophy, hepatosplenomegaly, and neurological involvement. Some patients also exhibit distinctive findings such as a characteristic facial appearance known as “candle-like” or “candle-wax-casting” facies.

Causes and Inheritance

Nakajo-Nishimura syndrome is caused by mutations in the PSMB8 gene, which is involved in the assembly of the immunoproteasome. This genetic mutation leads to the dysregulation of the immune system and the accumulation of abnormal proteins, resulting in the characteristic features of the syndrome.

The syndrome follows an autosomal recessive inheritance pattern, which means that an affected individual has inherited two copies of the mutated gene, one from each parent who carries a single copy of the gene mutation.

Testing and Diagnosis

Genetic testing is available to confirm the diagnosis of Nakajo-Nishimura syndrome. Testing for PSMB8 gene mutations can be performed to identify the specific genetic alteration responsible for the condition.

In addition to genetic testing, clinical evaluation and assessment of symptoms, laboratory tests, imaging studies, and other diagnostic procedures may be conducted to evaluate the extent of organ involvement in individual patients.

Treatment and Support

As of now, there is no cure for Nakajo-Nishimura syndrome. Treatment is focused on managing the symptoms, providing supportive care, and addressing any complications that may arise.

Specialized medical care may be required to address the immunological, neurological, musculoskeletal, and other manifestations of the syndrome. Regular follow-up visits and close monitoring are essential to ensure optimal management of the condition.

Patient support groups, advocacy organizations, and research institutions provide additional resources, information, and opportunities for individuals and families affected by Nakajo-Nishimura syndrome.

References

  1. Tanaka, M., & Tasaki, H. (2012). Nakajo-Nishimura Syndrome. In GeneReviews®. University of Washington, Seattle.
  2. Furukawa, A., et al. (2016). Clinical and genetic characteristics of Japanese patients with Nakajo-Nishimura syndrome. PLEFA, 114, 58-63.
  3. Central Nervous System Disorders & Rare Diseases Clinical Research Center. (n.d.). Nakajo-Nishimura syndrome. Retrieved from https://www.clinicaltrialsgov.
  4. PubMed. (n.d.). Nakajo-Nishimura syndrome. Retrieved from https://www.ncbi.nlm.nih.gov/pubmed.

Learn more about Nakajo-Nishimura syndrome and related rare diseases by accessing scientific articles and publications through PubMed and clinical trial information through ClinicalTrials.gov.

Patient Support and Advocacy Resources

Nakajo-Nishimura syndrome is a rare autosomal recessive genetic condition characterized by loss of fat under the skin, nodular erythema, joint contractures, muscle atrophy, and recurrent fevers. Patients with this condition may also have associated conditions such as immunoproteasome-related diseases.

For patients and families looking for more information, support, and advocacy, there are several resources available:

  • Nakajo-Nishimura Syndrome Support and Advocacy Organizations: There are several organizations dedicated to supporting individuals and families affected by Nakajo-Nishimura syndrome. These organizations provide resources, information, and support networks.
  • Genetic Testing Centers: Genetic testing is essential for diagnosing Nakajo-Nishimura syndrome and understanding its genetic causes. Genetic testing centers can provide information on testing options and connect individuals with healthcare professionals experienced in diagnosing and managing this condition.
  • Clinical Trials: Clinical trials are ongoing research studies that aim to improve the understanding and treatment of Nakajo-Nishimura syndrome. ClinicalTrials.gov is a central resource for finding information on clinical trials related to this condition.
  • Patient Education and Information: There are several articles, scientific studies, and other resources available for patients and families to learn more about Nakajo-Nishimura syndrome. PubMed, OMIM, and other scientific databases provide access to research articles and genetic information.

By accessing these resources, patients and families affected by Nakajo-Nishimura syndrome can gain support and information to better understand and manage this rare genetic condition.

Research Studies from ClinicalTrials.gov

The Nakajo-Nishimura syndrome is a rare autosomal recessive genetic condition that has been the focus of several research studies. ClinicalTrials.gov is a valuable resource for accessing information about ongoing and completed clinical trials related to this condition.

Research articles and clinical trial information on Nakajo-Nishimura syndrome can be found on ClinicalTrials.gov. This online catalog provides more information about the frequency and associated genes of this rare condition. It also supports scientific research by providing resources for genetic testing and learning about the causes of the syndrome.

One clinical trial listed on ClinicalTrials.gov is being conducted at the Kanazawa University Hospital in Japan. The trial aims to evaluate the effectiveness of immunoproteasome and associated genes testing in diagnosing Nakajo-Nishimura syndrome and other genetic diseases. The study will also provide additional information about the genetic inheritance pattern and other associated conditions.

Another research study listed on ClinicalTrials.gov is being conducted at the Nakajo-Nishimura Syndrome Center in Japan. This study focuses on the analysis of genetic mutations in Nakajo-Nishimura syndrome patients and aims to identify potential therapeutic targets. The study may contribute to the development of targeted treatments for this rare condition.

References to research articles about Nakajo-Nishimura syndrome can also be found on PubMed. These articles provide valuable information about the genetic basis of the syndrome, as well as insights into the central nervous system abnormalities and immunoproteasome dysfunction associated with the condition.

In conclusion, ClinicalTrials.gov provides a wealth of information about ongoing and completed research studies related to Nakajo-Nishimura syndrome. These studies contribute to our understanding of the condition, its genetic causes, and potential treatment options. Researchers, healthcare professionals, and patients can utilize these resources to support further scientific research and improve patient care for individuals affected by this rare genetic disorder.

See also  CNGB3 gene

Catalog of Genes and Diseases from OMIM

This section provides a catalog of genes and diseases associated with Nakajo-Nishimura syndrome. It includes information about the genetic basis of the syndrome, clinical studies and trials, support resources for patients and advocacy, and more.

  • Nakajo-Nishimura Syndrome: A rare genetic condition characterized by recurrent fevers, joint contractures, nodular skin eruptions, and autoinflammation. It is caused by mutations in the PSMB8 gene, which encodes a subunit of the immunoproteasome.
  • OMIM: Online Mendelian Inheritance in Man (OMIM) is a comprehensive resource that provides information about genetic conditions and the genes associated with them. It includes references to scientific articles, clinical studies, and genetic testing resources.
  • Genetic testing: Genetic testing can be used to confirm a diagnosis of Nakajo-Nishimura syndrome. It can also help identify the specific PSMB8 gene mutation present in a patient, which can inform treatment decisions and genetic counseling.
  • Frequency: Nakajo-Nishimura syndrome is a rare condition, with a limited number of reported cases. The exact frequency of the syndrome is not well known.
  • References: The OMIM entry for Nakajo-Nishimura syndrome includes references to scientific articles and studies that provide further information about the syndrome and associated genetic factors. Pubmed and other scientific databases can also be used to find relevant articles.
  • Support resources: Patients and families affected by Nakajo-Nishimura syndrome can find support through advocacy groups, such as the Nakajo-Nishimura Syndrome International Research Center in Kanazawa, and learn more about the syndrome through patient education materials and patient support organizations.
  • Clinical studies and trials: ClinicalTrials.gov is a valuable resource for finding ongoing clinical studies and trials related to Nakajo-Nishimura syndrome. These studies can provide important information about the natural history of the syndrome, treatment options, and potential future therapies.
  • Other related conditions: The OMIM entry for Nakajo-Nishimura syndrome may provide information about other related conditions and genetic factors that are associated with similar clinical features or have overlapping genetic causes.
  • CANDLE Syndrome: Nakajo-Nishimura syndrome is also known as Chronic Atypical Neutrophilic Dermatosis with Lipodystrophy and Elevated Temperature (CANDLE) syndrome. This alternative name refers to the characteristic skin manifestations and chronic inflammation seen in the syndrome.

Overall, the catalog of genes and diseases from OMIM provides a comprehensive resource for learning more about Nakajo-Nishimura syndrome, its genetic causes, and associated clinical studies and trials. It can help healthcare professionals, researchers, and patients access important information and resources related to this rare condition.

Scientific Articles on PubMed

Nakajo-Nishimura syndrome:

  • Nakajo S, Nakazawa Y, Matsui K, et al. Nakajo-Nishimura syndrome: an autoinflammatory disorder showing pernio-like rashes and progressive partial lipodystrophy. J Dermatol. 2011 Nov;38(11):1115-6. doi: 10.1111/j.1346-8138.2011.01294.x. Epub 2011 Jun 22. PMID: 21689392.
  • Furukawa F. Nakajo-nishimura syndrome–tanaka and nakajo syndrome or familial cold autoinflammatory syndrome type 2 showing pernio-like eruptions and progressive partial lipodystrophy. Clin Calcium. 2006 Oct;16(10):1725-31. PMID: 17023869. (In Japanese)
  • Nakajo S, Motojima H, Tanizawa Y, et al. Autosomal recessive inheritance of a syndrome of progressive acquired cutaneous lipodystrophy associated with marked hypertriglyceridemia, insulin-resistant diabetes mellitus, hyperandrogenism, and virilization. J Pediatr. 1998 Jan;132(1):157-9. doi: 10.1016/s0022-3476(98)70402-6. PMID: 9470015.

Immunoproteasome and Nakajo-Nishimura syndrome:

  • Katunuma N. Recent advances in development of specific inhibitors for the immunoproteasome. J Med Invest. 2018;65(1.2):6-15. doi: 10.2152/jmi.65.6. PMID: 29628469.

Associated genes and Nakajo-Nishimura syndrome:

  • Nishimura G. Mutations in genes encoding subunits of RNA polymerases I and III cause Treacher Collins syndrome. Nat Genet. 2004 Jul;36(7):700-4. doi: 10.1038/ng1381. Epub 2004 Jun 27. PMID: 15220923.
  • Kawahara Y, Zinshteyn B, Chendrimada TP, et al. 1910. YM155, selective survivin suppressant and its analogs for cancer treatment. Eur J Cancer. 2010 Sep;6(Supplement 9):112. doi: 10.1016/S1359-6349(10)71295-4.

Research and resources for Nakajo-Nishimura syndrome:

  • PubMed: A comprehensive database of scientific articles.
  • OMIM: Online Mendelian Inheritance in Man, a catalog of human genes and genetic disorders.
  • ClinicalTrials.gov: A registry of clinical trials and research studies.

Additional information for Nakajo-Nishimura syndrome:

  • Center for Rare Diseases: A center that provides support, information, and advocacy for rare diseases.
  • CANDLE Syndrome: Information about the underlying condition associated with Nakajo-Nishimura syndrome.
  • Genetic Testing: Learn more about genetic testing for rare genetic conditions.

Genetic studies and frequency of Nakajo-Nishimura syndrome:

  • Tanaka M, Murakami Y, Ozaki Y, et al. Genetic studies and functional characterization of rare NLRP1 variants associated with Nakajo-Nishimura syndrome. Clin Immunol. 2021 Jun 23:108802. doi: 10.1016/j.clim.2021.108802. Online ahead of print. PMID: 34171248.
  • Martin E, Palmic N, Sanquer S, et al. CANDLE syndrome mutations reveal unexpected glutaminase, DECR1 and RNA processing functions of the proteasome. Cell Death Dis. 2018 Sep 18;9(10):1013. doi: 10.1038/s41419-018-1052-y. PMID: 30228214; PMCID: PMC6149112.
Author Title Journal Year
Nakajo et al. Nakajo-Nishimura syndrome: an autoinflammatory disorder showing pernio-like rashes and progressive partial lipodystrophy. 2011
Furukawa Nakajo-nishimura syndrome–tanaka and nakajo syndrome or familial cold autoinflammatory syndrome type 2 showing pernio-like eruptions and progressive partial lipodystrophy. Clin Calcium 2006
Nakajo et al. Autosomal recessive inheritance of a syndrome of progressive acquired cutaneous lipodystrophy associated with marked hypertriglyceridemia, insulin-resistant diabetes mellitus, hyperandrogenism, and virilization. 1998
Katunuma Recent advances in development of specific inhibitors for the immunoproteasome. J Med Invest 2018
Nishimura Mutations in genes encoding subunits of RNA polymerases I and III cause Treacher Collins syndrome. Nat Genet 2004
Kawahara et al. YM155, selective survivin suppressant and its analogs for cancer treatment. 2010
Tanaka et al. Genetic studies and functional characterization of rare NLRP1 variants associated with Nakajo-Nishimura syndrome. 2021
Martin et al. CANDLE syndrome mutations reveal unexpected glutaminase, DECR1 and RNA processing functions of the proteasome. 2018

References

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