Found: 42
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Genotype‒phenotype correlation in recessive DNAJB4 myopathy.
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- Acta Neuropathologica Communications, 2024, v. 12, n. 1, p. 1, doi. 10.1186/s40478-024-01878-w
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- Article
The p97-UBXD8 complex regulates ER-Mitochondria contact sites by altering membrane lipid saturation and composition.
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- Nature Communications, 2023, v. 14, n. 1, p. 1, doi. 10.1038/s41467-023-36298-2
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- Article
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.
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- Nature Communications, 2022, v. 13, n. 1, p. 1, doi. 10.1038/s41467-022-32318-9
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- Article
A novel mutation in VCP causes Charcot-Marie-Tooth Type 2 disease.
- Published in:
- 2014
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- Publication type:
- journal article
Another VCP interactor: NF is enough.
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- 2011
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- journal article
Rare Manifestation of a c.290 C>T, p.Gly97Glu VCP Mutation.
- Published in:
- Case Reports in Genetics, 2015, v. 2015, p. 1, doi. 10.1155/2015/239167
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- Article
A Knock-In Mouse Model for the R120G Mutation of αBCrystallin Recapitulates Human Hereditary Myopathy and Cataracts.
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- PLoS ONE, 2011, v. 6, n. 3, p. 1, doi. 10.1371/journal.pone.0017671
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- Article
Limb-girdle muscular dystrophy: A perspective from adult patients on what matters most.
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- 2019
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- Publication type:
- journal article
A metastable subproteome underlies inclusion formation in muscle proteinopathies.
- Published in:
- Acta Neuropathologica Communications, 2019, v. 7, n. 1, p. N.PAG, doi. 10.1186/s40478-019-0853-9
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- Publication type:
- Article
Myopathy associated BAG3 mutations lead to protein aggregation by stalling Hsp70 networks.
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- Nature Communications, 2018, v. 9, n. 1, p. 1, doi. 10.1038/s41467-018-07718-5
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- Article
VCP/p97 cooperates with YOD1, UBXD1 and PLAA to drive clearance of ruptured lysosomes by autophagy.
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- EMBO Journal, 2017, v. 36, n. 2, p. 135, doi. 10.15252/embj.201695148
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- Article
Endolysosomal sorting of ubiquitylated caveolin-1 is regulated by VCP and UBXD1 and impaired by VCP disease mutations.
- Published in:
- Nature Cell Biology, 2011, v. 13, n. 9, p. 1116, doi. 10.1038/ncb2301
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- Article
Client processing is altered by novel myopathy-causing mutations in the HSP40 J domain.
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- PLoS ONE, 2020, v. 15, n. 6, p. 1, doi. 10.1371/journal.pone.0234207
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- Article
Loss of lipin 1-mediated phosphatidic acid phosphohydrolase activity in muscle leads to skeletal myopathy in mice.
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- FASEB Journal, 2019, v. 33, n. 1, p. 652, doi. 10.1096/fj.201800361R
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- Article
Rapamycin nanoparticles target defective autophagy in muscular dystrophy to enhance both strength and cardiac function.
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- FASEB Journal, 2014, v. 28, n. 5, p. 2047, doi. 10.1096/fj.13-237388
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- Article
Inhibition of DNAJ-HSP70 interaction improves strength in muscular dystrophy.
- Published in:
- 2020
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- Publication type:
- journal article
In vivo kinetic approach reveals slow SOD1 turnover in the CNS.
- Published in:
- Journal of Clinical Investigation, 2015, v. 125, n. 7, p. 2772, doi. 10.1172/JCI80705
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- Publication type:
- Article
Progression to Loss of Ambulation Among Patients with Autosomal Recessive Limb-girdle Muscular Dystrophy: A Systematic Review.
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- Journal of Neuromuscular Diseases, 2022, v. 9, n. 4, p. 477, doi. 10.3233/JND-210771
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- Article
LGMDD1 natural history and phenotypic spectrum: Implications for clinical trials.
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- Annals of Clinical & Translational Neurology, 2023, v. 10, n. 2, p. 181, doi. 10.1002/acn3.51709
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- Publication type:
- Article
Clinical utility of anti‐cytosolic 5'‐nucleotidase 1A antibody in idiopathic inflammatory myopathies.
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- Annals of Clinical & Translational Neurology, 2021, v. 8, n. 3, p. 571, doi. 10.1002/acn3.51294
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- Article
Connective tissue presentation in two families expands the phenotypic spectrum of PYROXD1 disorders.
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- Human Molecular Genetics, 2023, v. 32, n. 12, p. 2084, doi. 10.1093/hmg/ddad035
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- Article
Exploiting macrophage autophagy-lysosomal biogenesis as a therapy for atherosclerosis.
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- Nature Communications, 2017, v. 8, n. 6, p. 1, doi. 10.1038/ncomms15750
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- Article
Phenotypic diversity in an international Cure VCP Disease registry.
- Published in:
- 2020
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- Publication type:
- journal article
Proteomics of rimmed vacuoles define new risk allele in inclusion body myositis.
- Published in:
- 2017
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- Publication type:
- journal article
Exome sequencing reveals DNAJB6 mutations in dominantly-inherited myopathy.
- Published in:
- Annals of Neurology, 2012, v. 71, n. 3, p. 407, doi. 10.1002/ana.22683
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- Publication type:
- Article
CANOMAD and other chronic ataxic neuropathies with disialosyl antibodies (CANDA).
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- Journal of Neurology, 2018, v. 265, n. 6, p. 1402, doi. 10.1007/s00415-018-8853-4
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- Publication type:
- Article
Valosin-containing protein (VCP) is required for autophagy and is disrupted in VCP disease.
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- Journal of Cell Biology, 2009, v. 187, n. 6, p. 875, doi. 10.1083/jcb.200908115
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- Article
Myofibrillar disruption and RNA-binding protein aggregation in a mouse model of limb-girdle muscular dystrophy 1D.
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- Human Molecular Genetics, 2015, v. 24, n. 23, p. 6588, doi. 10.1093/hmg/ddv363
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- Publication type:
- Article
Prion-like nuclear aggregation of TDP-43 during heat shock is regulated by HSP40/70 chaperones.
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- Human Molecular Genetics, 2014, v. 23, n. 1, p. 157, doi. 10.1093/hmg/ddt408
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- Publication type:
- Article
mTOR dysfunction contributes to vacuolar pathology and weakness in valosin-containing protein associated inclusion body myopathy.
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- Human Molecular Genetics, 2013, v. 22, n. 6, p. 1167, doi. 10.1093/hmg/dds524
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- Article
An aggregation sensing reporter identifies leflunomide and teriflunomide as polyglutamine aggregate inhibitors.
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- Human Molecular Genetics, 2012, v. 21, n. 3, p. 664, doi. 10.1093/hmg/ddr500
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- Article
Loss of function variants in DNAJB4 cause a myopathy with early respiratory failure.
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- Acta Neuropathologica, 2023, v. 145, n. 1, p. 127, doi. 10.1007/s00401-022-02510-8
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- Article
Distinctive chaperonopathy in skeletal muscle associated with the dominant variant in DNAJB4.
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- Acta Neuropathologica, 2023, v. 145, n. 2, p. 235, doi. 10.1007/s00401-022-02530-4
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- Article
Defining clinical endpoints in limb girdle muscular dystrophy: a GRASP-LGMD study.
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- BMC Neurology, 2024, v. 24, n. 1, p. 1, doi. 10.1186/s12883-024-03588-1
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- Article
Inclusion body myopathy, Paget's disease of the bone and fronto-temporal dementia: a disorder of autophagy.
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- Human Molecular Genetics, 2010, v. 19, n. R1, p. R38
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- Article
Myosin binding protein C1: a novel gene for autosomal dominant distal arthrogryposis type 1.
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- Human Molecular Genetics, 2010, v. 19, n. 7, p. 1165, doi. 10.1093/hmg/ddp587
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- Article
Transgenic expression of inclusion body myopathy associated mutant p97/VCP causes weakness and ubiquitinated protein inclusions in mice.
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- Human Molecular Genetics, 2007, v. 16, n. 8, p. 919, doi. 10.1093/hmg/ddm037
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- Article
Inclusion body myopathy-associated mutations in p97/VCP impair endoplasmic reticulum-associated degradation.
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- Human Molecular Genetics, 2006, v. 15, n. 2, p. 189, doi. 10.1093/hmg/ddi426
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- Article
Multisystem Proteinopathy Due to VCP Mutations: A Review of Clinical Heterogeneity and Genetic Diagnosis.
- Published in:
- Genes, 2022, v. 13, n. 6, p. 963, doi. 10.3390/genes13060963
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- Article
Current and Future Approaches to Classify VUSs in LGMD-Related Genes.
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- Genes, 2022, v. 13, n. 2, p. 382, doi. 10.3390/genes13020382
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- Publication type:
- Article
Processing of Wild-Type and Mutant Familial Alzheimer’s Disease-Associated Presenilin-1 in Cultured Neurons.
- Published in:
- Journal of Neurochemistry, 1999, v. 73, n. 1, p. 31, doi. 10.1046/j.1471-4159.1999.0730031.x
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- Article
TMEM184b Promotes Axon Degeneration and Neuromuscular Junction Maintenance.
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- Journal of Neuroscience, 2016, v. 36, n. 17, p. 4681, doi. 10.1523/JNEUROSCI.2893-15.2016
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- Publication type:
- Article