PSMB8 Encoding the β5i Proteasome Subunit Is Mutated in Joint Contractures, Muscle Atrophy, Microcytic Anemia, and Panniculitis-Induced Lipodystrophy Syndrome
- 10 December 2010
- journal article
- research article
- Published by Elsevier BV in American Journal of Human Genetics
- Vol. 87 (6), 866-872
- https://doi.org/10.1016/j.ajhg.2010.10.031
Abstract
No abstract availableKeywords
This publication has 34 references indexed in Scilit:
- Computational analysis and modeling of cleavage by the immunoproteasome and the constitutive proteasomeBMC Bioinformatics, 2010
- An Autosomal Recessive Syndrome of Joint Contractures, Muscular Atrophy, Microcytic Anemia, and Panniculitis-Associated LipodystrophyJournal of Clinical Endocrinology & Metabolism, 2010
- Monogenic autoinflammatory diseases: new insights into clinical aspects and pathogenesisCurrent Opinion in Rheumatology, 2010
- Critical role for the immunoproteasome subunit LMP7 in the resistance of mice toToxoplasma gondiiinfectionEuropean Journal of Immunology, 2009
- A Systematic Approach to Mapping Recessive Disease Genes in Individuals from Outbred PopulationsPLoS Genetics, 2009
- PLINK: A Tool Set for Whole-Genome Association and Population-Based Linkage AnalysesAmerican Journal of Human Genetics, 2007
- AGPAT2 is mutated in congenital generalized lipodystrophy linked to chromosome 9q34Nature Genetics, 2002
- Main-chain Bond Lengths and Bond Angles in Protein StructuresJournal of Molecular Biology, 1993
- Assessment of protein models with three-dimensional profilesNature, 1992
- A rapid and sensitive method for the quantitation of microgram quantities of protein utilizing the principle of protein-dye bindingAnalytical Biochemistry, 1976