Kelch-like homologue 9 mutation is associated with an early onset autosomal dominant distal myopathy
about
Update on the Kelch-like (KLHL) gene familyUbiquitin ligase activity of Cul3-KLHL7 protein is attenuated by autosomal dominant retinitis pigmentosa causative mutationStructural Basis for Cul3 Protein Assembly with the BTB-Kelch Family of E3 Ubiquitin LigasesKelch proteins: emerging roles in skeletal muscle development and diseases.Pathophysiological concepts in the congenital myopathies: blurring the boundaries, sharpening the focusADSSL1 mutation relevant to autosomal recessive adolescent onset distal myopathyKelch Repeat and BTB Domain Containing Protein 5 (Kbtbd5) Regulates Skeletal Muscle Myogenesis through the E2F1-DP1 ComplexMonoallelic Mutations in the Translation Initiation Codon of KLHL24 Cause Skin FragilityRegulation of with-no-lysine kinase signaling by Kelch-like proteins.Dominant mutations in KBTBD13, a member of the BTB/Kelch family, cause nemaline myopathy with cores.Crystal structure of KLHL3 in complex with Cullin3Clinical utility gene card for: Laing distal myopathy.Mutations in the N-terminal actin-binding domain of filamin C cause a distal myopathyIntegrated Genomics of Crohn's Disease Risk Variant Identifies a Role for CLEC12A in Antibacterial AutophagyUNC-89 (obscurin) binds to MEL-26, a BTB-domain protein, and affects the function of MEI-1 (katanin) in striated muscle of Caenorhabditis elegans.Aberrant Autophagic Response in The Muscle of A Knock-in Mouse Model of Spinal and Bulbar Muscular Atrophy.Mutations in KLHL40 are a frequent cause of severe autosomal-recessive nemaline myopathy.Cullin 3 as a novel target in diverse pathologiesThe emerging family of CULLIN3-RING ubiquitin ligases (CRL3s): cellular functions and disease implications.New strategies to inhibit KEAP1 and the Cul3-based E3 ubiquitin ligases.A new early-onset neuromuscular disorder associated with kyphoscoliosis peptidase (KY) deficiency.Cullin 3-Based Ubiquitin Ligases as Master Regulators of Mammalian Cell Differentiation.Cullin3-RING ubiquitin ligase activity is required for striated muscle function in mice.The Diagnostic Value of MRI Pattern Recognition in Distal Myopathies.
P2860
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P2860
Kelch-like homologue 9 mutation is associated with an early onset autosomal dominant distal myopathy
description
2010 nî lūn-bûn
@nan
2010 թուականի Յունիսին հրատարակուած գիտական յօդուած
@hyw
2010 թվականի հունիսին հրատարակված գիտական հոդված
@hy
2010年の論文
@ja
2010年論文
@yue
2010年論文
@zh-hant
2010年論文
@zh-hk
2010年論文
@zh-mo
2010年論文
@zh-tw
2010年论文
@wuu
name
Kelch-like homologue 9 mutatio ...... somal dominant distal myopathy
@ast
Kelch-like homologue 9 mutatio ...... somal dominant distal myopathy
@en
type
label
Kelch-like homologue 9 mutatio ...... somal dominant distal myopathy
@ast
Kelch-like homologue 9 mutatio ...... somal dominant distal myopathy
@en
prefLabel
Kelch-like homologue 9 mutatio ...... somal dominant distal myopathy
@ast
Kelch-like homologue 9 mutatio ...... somal dominant distal myopathy
@en
P2093
P2860
P356
P1433
P1476
Kelch-like homologue 9 mutatio ...... somal dominant distal myopathy
@en
P2093
Alice Steinbrecher
Carsten Bönnemann
Florian von Deimling
Gilbert G Privé
Katrin Hoffmann
Knut Brockmann
Mark Hannink
Ralf Herrmann
Sebahattin Cirak
Shrikesh Sachdev
P2860
P304
P356
10.1093/BRAIN/AWQ108
P407
P577
2010-06-16T00:00:00Z