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Molecular and cellular basis of genetically inherited skeletal muscle disorders

Nature reviews. Molecular cell biology, 2021-11, Vol.22 (11), p.713

2021

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Exploiting macrophage autophagy-lysosomal biogenesis as a therapy for atherosclerosis

Nature communications, 2017-06, Vol.8 (1), p.15750-15750, Article 15750

2017

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Valosin-containing protein (VCP) is required for autophagy and is disrupted in VCP disease

The Journal of cell biology, 2009-12, Vol.187 (6), p.875-888

2009

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VCP maintains lysosomal homeostasis and TFEB activity in differentiated skeletal muscle

Autophagy, 2019-06, Vol.15 (6), p.1082-1099

2019

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Keap1/Cullin3 Modulates p62/SQSTM1 Activity via UBA Domain Ubiquitination

Cell reports (Cambridge), 2017-04, Vol.19 (1), p.188-202

2017

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Quantitation of "autophagic flux" in mature skeletal muscle

Autophagy, 2010-10, Vol.6 (7), p.929-935

2010

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Comprehensive functional characterization of SGCB coding variants predicts pathogenicity in limb-girdle muscular dystrophy type R4/2E

The Journal of clinical investigation, 2023-06, Vol.133 (12), p.1-11

2023

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The p97-UBXD8 complex regulates ER-Mitochondria contact sites by altering membrane lipid saturation and composition

Nature communications, 2023-02, Vol.14 (1), p.638-638, Article 638

2023

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A novel mutation in VCP causes Charcot―Marie―Tooth Type 2 disease

Brain (London, England : 1878), 2014-11, Vol.137 (Pt 11), p.2897-2902

2014

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Client processing is altered by novel myopathy-causing mutations in the HSP40 J domain

PloS one, 2020-06, Vol.15 (6), p.e0234207-e0234207

2020

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Endolysosomal sorting of ubiquitylated caveolin-1 is regulated by VCP and UBXD1 and impaired by VCP disease mutations

Nature cell biology, 2011-09, Vol.13 (9), p.1116

2011

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Exome sequencing reveals DNAJB6 mutations in dominantly-inherited myopathy

Annals of neurology, 2012-03, Vol.71 (3), p.407-416

2012

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Prion-like nuclear aggregation of TDP-43 during heat shock is regulated by HSP40/70 chaperones

Human molecular genetics, 2014-01, Vol.23 (1), p.157-170

2014

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Proteomics of rimmed vacuoles define new risk allele in inclusion body myositis

Annals of neurology, 2017-02, Vol.81 (2), p.227-239

2017

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Altered cofactor regulation with disease-associated p97/VCP mutations

Proceedings of the National Academy of Sciences - PNAS, 2015-04, Vol.112 (14), p.E1705-E1714

2015

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Disease-associated mutations within the yeast DNAJB6 homolog Sis1 slow conformer-specific substrate processing and can be corrected by the modulation of nucleotide exchange factors

Nature communications, 2022-08, Vol.13 (1), p.4570-14, Article 4570

2022

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Myopathy associated BAG3 mutations lead to protein aggregation by stalling Hsp70 networks

Nature communications, 2018-12, Vol.9 (1), p.5342-14, Article 5342

2018

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Current and Future Approaches to Classify VUSs in LGMD-Related Genes

Genes, 2022-02, Vol.13 (2), p.382

2022

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Multisystem Proteinopathy Due to VCP Mutations: A Review of Clinical Heterogeneity and Genetic Diagnosis

Genes, 2022-05, Vol.13 (6), p.963

2022

Volltextzugriff (PDF)

Myopathy-causing Mutations in an HSP40 Chaperone Disrupt Processing of Specific Client Conformers

The Journal of biological chemistry, 2014-07, Vol.289 (30), p.21120-21130

2014

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Monitoring Autophagy in the Treatment of Protein Aggregate Diseases: Steps Toward Identifying Autophagic Biomarkers

Neurotherapeutics, 2013-07, Vol.10 (3), p.383-390

Weihl, Conrad C.

2013

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Inhibition of DNAJ-HSP70 interaction improves strength in muscular dystrophy

The Journal of clinical investigation, 2020-08, Vol.130 (8), p.4470-4485

2020

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Myofibrillar disruption and RNA-binding protein aggregation in a mouse model of limb-girdle muscular dystrophy 1D

Human molecular genetics, 2015-12, Vol.24 (23), p.6588-6602

2015

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Mutations in the J domain of DNAJB6 cause dominant distal myopathy

Neuromuscular disorders : NMD, 2020-01, Vol.30 (1), p.38-46

2020

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Molecular and cellular basis of genetically inherited skeletal muscle disorders

Exploiting macrophage autophagy-lysosomal biogenesis as a therapy for atherosclerosis

Mutations in prion-like domains in hnRNPA2B1 and hnRNPA1 cause multisystem proteinopathy and ALS

Valosin-containing protein (VCP) is required for autophagy and is disrupted in VCP disease

VCP maintains lysosomal homeostasis and TFEB activity in differentiated skeletal muscle

Keap1/Cullin3 Modulates p62/SQSTM1 Activity via UBA Domain Ubiquitination

Quantitation of "autophagic flux" in mature skeletal muscle

Comprehensive functional characterization of SGCB coding variants predicts pathogenicity in limb-girdle muscular dystrophy type R4/2E

The p97-UBXD8 complex regulates ER-Mitochondria contact sites by altering membrane lipid saturation and composition

A novel mutation in VCP causes Charcot―Marie―Tooth Type 2 disease

Client processing is altered by novel myopathy-causing mutations in the HSP40 J domain

Endolysosomal sorting of ubiquitylated caveolin-1 is regulated by VCP and UBXD1 and impaired by VCP disease mutations

Exome sequencing reveals DNAJB6 mutations in dominantly-inherited myopathy

Prion-like nuclear aggregation of TDP-43 during heat shock is regulated by HSP40/70 chaperones

Proteomics of rimmed vacuoles define new risk allele in inclusion body myositis

Altered cofactor regulation with disease-associated p97/VCP mutations

Disease-associated mutations within the yeast DNAJB6 homolog Sis1 slow conformer-specific substrate processing and can be corrected by the modulation of nucleotide exchange factors

Myopathy associated BAG3 mutations lead to protein aggregation by stalling Hsp70 networks

Current and Future Approaches to Classify VUSs in LGMD-Related Genes

Multisystem Proteinopathy Due to VCP Mutations: A Review of Clinical Heterogeneity and Genetic Diagnosis

Myopathy-causing Mutations in an HSP40 Chaperone Disrupt Processing of Specific Client Conformers

Monitoring Autophagy in the Treatment of Protein Aggregate Diseases: Steps Toward Identifying Autophagic Biomarkers

Inhibition of DNAJ-HSP70 interaction improves strength in muscular dystrophy

Myofibrillar disruption and RNA-binding protein aggregation in a mouse model of limb-girdle muscular dystrophy 1D

Mutations in the J domain of DNAJB6 cause dominant distal myopathy

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