A novel mutation in DNAJB6, p.(Phe91Leu), in childhood-onset LGMD1D with a severe phenotype.

No abstract is available for this paper.

• Publication year

  2015

• Venue

  Neuromuscular Disorders

• Publication date

  2015-11-01

• Fields of study

  Medicine

• Identifiers
  DOI 10.1016/j.nmd.2015.08.002PMID 26371419
• External record

  Open on Semantic Scholar

• Source metadata

  Semantic Scholar, PubMed

• No claims are published for this paper.

• No concepts are published for this paper.

• The limb-girdle muscular dystrophies.

  2014cited by this paper
• Myopathy-causing Mutations in an HSP40 Chaperone Disrupt Processing of Specific Client Conformers*

  2014cited by this paper
• Genetic basis of limb-girdle muscular dystrophies: the 2014 update

  2014influential reference
• Identification of KMT2D and KDM6A mutations by exome sequencing in Korean patients with Kabuki syndrome

  2014cited by this paper
• Exome sequencing identifies a DNAJB6 mutation in a family with dominantly-inherited limb-girdle muscular dystrophy.

  2014cited by this paper
• ‘Pathognomonic’ muscle imaging findings in DNAJB6 mutated LGMD1D

  2013cited by this paper
• DNAJB6 myopathy in an Asian cohort and cytoplasmic/nuclear inclusions.

  2013cited by this paper
• Altered fast and slow inactivation of the N440K Nav1.4 mutant in a periodic paralysis syndrome

  2012cited by this paper
• Limb-Girdle Muscular Dystrophy Overview

  2012cited by this paper
• Exome sequencing reveals DNAJB6 mutations in dominantly‐inherited myopathy

  2012cited by this paper
• Mutations affecting the cytoplasmic functions of the co-chaperone DNAJB6 cause limb-girdle muscular dystrophy

  2012influential reference
• Four new Finnish families with LGMD1D; refinement of the clinical phenotype and the linked 7q36 locus.

  2011cited by this paper
• High Cleavage Efficiency of a 2A Peptide Derived from Porcine Teschovirus-1 in Human Cell Lines, Zebrafish and Mice

  2011cited by this paper
• Role of DnaJ G/F-rich Domain in Conformational Recognition and Binding of Protein Substrates*

  2010cited by this paper
• The enigma of 7q36 linked autosomal dominant limb girdle muscular dystrophy

  2010cited by this paper
• A DNAJB chaperone subfamily with HDAC-dependent activities suppresses toxic protein aggregation.

  2010cited by this paper
• The HSP70 chaperone machinery: J proteins as drivers of functional specificity

  2010cited by this paper
• Standardized Human Pedigree Nomenclature: Update and Assessment of the Recommendations of the National Society of Genetic Counselors

  2008cited by this paper
• Computational analysis of the human HSPH/HSPA/DNAJ family and cloning of a human HSPH/HSPA/DNAJ expression library

  2008cited by this paper
• Large isoform of MRJ (DNAJB6) reduces malignant activity of breast cancer

  2008cited by this paper
• A Clinical Approach to Muscle Diseases

  2008cited by this paper
• Structural and functional diversities between members of the human HSPB, HSPH, HSPA, and DNAJ chaperone families.

  2008cited by this paper
• Caveolin-1(-/-)- and caveolin-2(-/-)-deficient mice both display numerous skeletal muscle abnormalities, with tubular aggregate formation.

  2007cited by this paper
• Transforming Growth Factor-β Stimulates p300-dependent RUNX3 Acetylation, Which Inhibits Ubiquitination-mediated Degradation*

  2004cited by this paper
• Transforming Growth Factor- Stimulates p300-dependent RUNX3 Acetylation, Which Inhibits Ubiquitination-mediated Degradation*

  2004cited by this paper
• Characterization of two isoforms of a human DnaJ homologue, HSJ2

  2003cited by this paper
• The limb-girdle muscular dystrophies

  2003cited by this paper
• Characterization of a Brain-enriched Chaperone, MRJ, That Inhibits Huntingtin Aggregation and Toxicity Independently*

  2002cited by this paper
• Limb girdle muscular dystrophy

  2001cited by this paper
• The role of Sis1 in the maintenance of the [RNQ+] prion

  2001cited by this paper
• The Glycine-Phenylalanine-Rich Region Determines the Specificity of the Yeast Hsp40 Sis1

  1999cited by this paper
• Identification of a new autosomal dominant limb-girdle muscular dystrophy locus on chromosome 7.

  1999cited by this paper
• Stages of embryonic development of the zebrafish

  1995cited by this paper
• The zebrafish book : a guide for the laboratory use of zebrafish (Danio rerio)

  1995cited by this paper
• Evidence for locus heterogeneity in autosomal dominant limb-girdle muscular dystrophy.

  1995cited by this paper
• Genetic studies of a family with two unusual autosomal dominant conditions: muscular dystrophy and Pelger-Huet anomaly. Clinical, pathologic and linkage considerations.

  1969cited by this paper

• Essential neuromuscular advice for pathologists: Limb Girdle Muscular Dystrophy (second of two parts)

  2025influential citation
• Zebrafish as a Model Organism for Research in Rare Genetic Neuromuscular Diseases

  2025cites this paper
• Molecular genetics of J-domain protein-related chaperonopathies in skeletal muscle.

  2025cites this paper
• Distrofie muscolari dei cingoli

  2025cites this paper
• Heat shock induces alternative polyadenylation through dynamic DNA methylation and chromatin looping

  2025cites this paper
• Structural, functional relevance of DNAJBs in protein aggregation and associated neurodegenerative diseases.

  2025cites this paper
• MRI for the diagnosis of limb girdle muscular dystrophies

  2024cites this paper
• Mitochondrial abnormalities contribute to muscle weakness in a Dnajb6 deficient zebrafish model

  2024cites this paper
• Modeling Human Muscular Dystrophies in Zebrafish: Mutant Lines, Transgenic Fluorescent Biosensors, and Phenotyping Assays

  2023cites this paper
• DNAJB6 mutants display toxic gain of function through unregulated interaction with Hsp70 chaperones

  2023cites this paper
• Muscle MRI patterns for limb girdle muscle dystrophies: systematic review

  2023cites this paper
• Case Report: A Novel Splice-Site Mutation in DNAJB6 Associated With Juvenile-Onset Proximal–Distal Myopathy in a Chinese Patient

  2022cites this paper
• High-Efficiency Expression and Purification of DNAJB6b Based on the pH-Modulation of Solubility and Denaturant-Modulation of Size

  2022cites this paper
• A novel recessive mutation affecting DNAJB6a causes myofibrillar myopathy

  2021cites this paper
• Neuromuscular Diseases Due to Chaperone Mutations: A Review and Some New Results

  2020cites this paper
• Intrafamilial variability of limb-girdle muscular dystrophy, LGMD1D type.

  2020cites this paper
• Hsp70 machinery vs protein aggregation: the role of chaperones in cellular protein homeostasis

  2019cites this paper
• LGMD 1 D myopathy with cytoplasmic and nuclear inclusions in a Saudi family due to DNAJB 6 mutation

  2019influential citation
• The clinical and molecular spectrum of autosomal dominant limb-girdle muscular dystrophies focusing on transportinopathy

  2019cites this paper
• Mutations in the J domain of DNAJB6 cause dominant distal myopathy.

  2019cites this paper
• Hsp70 machinery vs protein aggregation

  2019cites this paper
• Hsp70 machinery vs protein aggregation

  2019cites this paper
• Zebrafish Models of Muscular Dystrophies and Congenital Myopathies

  2018cites this paper
• Novel mutations in DNAJB6 cause LGMD1D and distal myopathy in French families

  2018influential citation
• DNAJ Proteins in neurodegeneration: essential and protective factors

  2018cites this paper
• Advances in the Understanding of Skeletal Myopathies from Zebrafish Models

  2018cites this paper
• LGMD1D myopathy with cytoplasmic and nuclear inclusions in a Saudi family due to DNAJB6 mutation

  2018influential citation
• Myopathy associated BAG3 mutations lead to protein aggregation by stalling Hsp70 networks

  2018cites this paper
• The Author Reply: Genotypic and Phenotypic Heterogeneity of LGMD1D due to DNAJB6 Mutations

  2018cites this paper
• Genotypic and Phenotypic Heterogeneity of LGMD1D due to DNAJB6 Mutations

  2018cites this paper
• Two Korean Families with Limb-Girdle Muscular Dystrophy Type 1D Associated with DNAJB6 Mutations

  2018cites this paper
• A novel DNAJB6 mutation causes dominantly inherited distal‐onset myopathy and compromises DNAJB6 function

  2017cites this paper
• DNAJB6 Myopathies: Focused Review on an Emerging and Expanding Group of Myopathies

  2016cites this paper