Proteomic identification of FHL1 as the protein mutated in human reducing body myopathy
about
Disrupted autophagy undermines skeletal muscle adaptation and integrityA LIM-9 (FHL)/SCPL-1 (SCP) complex interacts with the C-terminal protein kinase regions of UNC-89 (obscurin) in Caenorhabditis elegans muscle.A novel mutation in FHL1 in a family with X-linked scapuloperoneal myopathy: phenotypic spectrum and structural study of FHL1 mutations.Autosomal-dominant distal myopathy associated with a recurrent missense mutation in the gene encoding the nuclear matrix protein, matrin 3Myofibrillar myopathies: new developments.A rare variant in the FHL1 gene associated with X-linked recessive hypoparathyroidism.Protein quality control during erythropoiesis and hemoglobin synthesisAggresome-Autophagy Involvement in a Sarcopenic Patient with Rigid Spine Syndrome and a p.C150R Mutation in FHL1 GeneEvidence-based guideline summary: diagnosis and treatment of limb-girdle and distal dystrophies: report of the guideline development subcommittee of the American Academy of Neurology and the practice issues review panel of the American Association oA combined laser microdissection and mass spectrometry approach reveals new disease relevant proteins accumulating in aggregates of filaminopathy patientsMutation in BAG3 causes severe dominant childhood muscular dystrophy.FHL1 reduces dystrophy in transgenic mice overexpressing FSHD muscular dystrophy region gene 1 (FRG1).Fhl1 W122S causes loss of protein function and late-onset mild myopathy.Skeletal muscle proteomics: current approaches, technical challenges and emerging techniquesPhenotypic heterogeneity in British patients with a founder mutation in the FHL1 geneThe sarcomeric Z-disc and Z-discopathies.Reducing bodies and myofibrillar myopathy features in FHL1 muscular dystrophy.Four-and-a-half LIM domain proteins inhibit transactivation by hypoxia-inducible factor 1An analysis of exome sequencing for diagnostic testing of the genes associated with muscle disease and spastic paraplegia.Proteomics of rimmed vacuoles define new risk allele in inclusion body myositis.Development of autoantibodies against muscle-specific FHL1 in severe inflammatory myopathies.Identification of FHL1 as a regulator of skeletal muscle mass: implications for human myopathy.Human four-and-a-half LIM family members suppress tumor cell growth through a TGF-beta-like signaling pathway.Exome sequencing identifies variants in two genes encoding the LIM-proteins NRAP and FHL1 in an Italian patient with BAG3 myofibrillar myopathy.Myofibrillar myopathies.FHL1 interacts with oestrogen receptors and regulates breast cancer cell growthGenes, proteins and complexes: the multifaceted nature of FHL family proteins in diverse tissues.Clinical, histological and genetic characterization of reducing body myopathy caused by mutations in FHL1.Mutations of the FHL1 gene cause Emery-Dreifuss muscular dystrophy.SLIMMER (FHL1B/KyoT3) interacts with the proapoptotic protein Siva-1 (CD27BP) and delays skeletal myoblast apoptosis.199th ENMC international workshop: FHL1 related myopathies, June 7-9, 2013, Naarden, The Netherlands.169th ENMC International Workshop Rare Structural Congenital Myopathies 6-8 November 2009, Naarden, The Netherlands.A study of FHL1, BAG3, MATR3, PTRF and TCAP in Australian muscular dystrophy patients.Skeletal muscle biopsy analysis in reducing body myopathy and other FHL1-related disorders.Loss of FHL1 induces an age-dependent skeletal muscle myopathy associated with myofibrillar and intermyofibrillar disorganization in mice.Up-regulated FHL1 expression maybe involved in the prognosis of Hirschsprung's disease.The sarcomeric M-region: a molecular command center for diverse cellular processes.
P2860
Q28077297-6B7B1767-975E-4AD9-8CA3-C9C75293C202Q30157344-37CA207D-3934-4E22-AABF-5A54E1076DE2Q30391417-0E5841DE-CB52-4E3C-A225-DCE65EA5B3AEQ30438210-D2306E2B-059D-41E0-A31F-E7670DBA6502Q31135460-C35E944D-1786-4ECD-9C25-4273723D434AQ33844376-389C5ABC-A36A-4D2F-9B30-C06E9FA2C747Q34060218-7F3135E4-CA3F-4DC4-A87B-D8CFD9282D02Q34063352-B9B8B3C5-29F7-4E8E-9075-03868485E743Q34386584-554D1643-B676-4799-A072-0006DE83F386Q34463331-B1A2533D-084D-43C7-8993-90B9ACC968E8Q34904884-6DFB37D9-EF8C-44EA-A448-80081C4491A3Q35103393-FC86ABF2-778B-46B2-BBD7-2AFDBE95D87BQ35127324-E7E2BA55-11B5-4C8B-AA5B-6707EB81A6F0Q35128702-5B5EC915-5C0E-46E6-B7B7-D3BAB37C23EBQ35304215-C83FC4BE-5801-489A-9B62-ABCE0E010CCAQ35418525-2EE27E88-4860-4F73-80E1-F784ADFE6974Q35606225-6C1BF628-9CD9-476E-B59E-AE23A43A576AQ35838885-B7D1D339-CE0F-488D-A600-6FE996FDCA68Q35896989-ABCB856F-A1FF-423D-8E17-92A26E6621E8Q36232194-FF94172B-6119-4EE0-9719-AA68D871D091Q36335887-CA595E8E-D8FE-4896-BA23-511DC348727EQ37010722-BF2F3529-2FDC-42BF-8264-33A78C066226Q37073709-ABDF51F2-80F2-4A33-BAA1-BB1BCA605B2DQ37231073-67D5A282-F96D-4D46-A14A-78BF20F6BE39Q37260231-FFA47970-C321-4FC0-8411-5669DA79AD69Q37293773-168819AA-763E-478D-B706-868661CA18F9Q37294304-873D76BC-9C7D-443D-8D28-66298EF5790AQ37300276-7080EDBA-91E6-4EA3-9035-281245DB2139Q37408211-8C61DCB0-45CB-413D-A57F-522F129C82EFQ37449601-24FB362B-8CAB-494A-B986-C21F1413EACAQ37555727-A1BBA45D-47CD-498A-87B5-99F53B7FDE2AQ37555732-B2D878E2-BA37-4DE1-AB10-47B0DC2789CEQ37555761-93740BB3-7EF0-4BBB-B72C-8D48C6C3A844Q37555776-A11777EB-503C-45D3-B8FB-06D0D7011D9FQ37564268-AC647C41-BF5F-42FB-AA0F-AB1E9F887B42Q37565670-D53227C0-91CE-451E-AC5E-38334392D1B0Q38471353-D40DFE1F-44E1-48D1-BA2B-3E33EC4A0AAF
P2860
Proteomic identification of FHL1 as the protein mutated in human reducing body myopathy
description
2008 nî lūn-bûn
@nan
2008 թուականի Մարտին հրատարակուած գիտական յօդուած
@hyw
2008 թվականի մարտին հրատարակված գիտական հոդված
@hy
2008年の論文
@ja
2008年論文
@yue
2008年論文
@zh-hant
2008年論文
@zh-hk
2008年論文
@zh-mo
2008年論文
@zh-tw
2008年论文
@wuu
name
Proteomic identification of FHL1 as the protein mutated in human reducing body myopathy
@ast
Proteomic identification of FHL1 as the protein mutated in human reducing body myopathy
@en
Proteomic identification of FHL1 as the protein mutated in human reducing body myopathy
@nl
type
label
Proteomic identification of FHL1 as the protein mutated in human reducing body myopathy
@ast
Proteomic identification of FHL1 as the protein mutated in human reducing body myopathy
@en
Proteomic identification of FHL1 as the protein mutated in human reducing body myopathy
@nl
prefLabel
Proteomic identification of FHL1 as the protein mutated in human reducing body myopathy
@ast
Proteomic identification of FHL1 as the protein mutated in human reducing body myopathy
@en
Proteomic identification of FHL1 as the protein mutated in human reducing body myopathy
@nl
P2093
P2860
P50
P3181
P356
P1476
Proteomic identification of FHL1 as the protein mutated in human reducing body myopathy
@en
P2093
Alexander R Judkins
Arupa Ganguly
Baijayanta Maiti
Caroline Sewry
Carsten G Bönnemann
Hans-Hilmar Goebel
Jeffrey A Golden
Joachim Schessl
Lynn Spruce
Meagan J McGrath
P2860
P304
P3181
P356
10.1172/JCI34450
P407
P50
P577
2008-03-01T00:00:00Z