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ProteomicsSkeletal muscle cell protein dysregulation highlights the pathogenesis mechanism of myopathy-associated p97/VCP R155H mutations
p97/VCP, a hexametric member of the AAA-ATPase superfamily, has been associated with a wide range of cellular protein pathways, such as proteasomal degradation, the unfolding of polyubiquitinated proteins, and autophagosome maturation. Autosomal dominant p97/VCP mutations cause a rare hereditary mul...
ORGANISM(S): Homo sapiens (Human) 
2023-07-23 | PXD044004 | Pride
Ibmpfd/als Myopathy Ipscs R155h mutation. Vcp/p97 Skeletal muscle 
ProteomicsProteins co-localized with RNA Pol2 in ALS patient-derived neural precursors
Deficiency of proteostasis and RNA metabolism are increasingly recognized as critical drivers of neurodegenerative diseases. In this study, we focused on RNA polymerase II (Pol2) as the converging point of these two elements to understand how transcriptional machinery is affected by ALS-associated V...
ORGANISM(S): Homo Sapiens (human) 
2023-03-02 | PXD034483 | JPOST Repository
UnknownMotor neuron involvement in multisystem proteinopathy: implications for ALS.
Not available
S-EPMC3908355 | biostudies-literature
UnknownSkeletal muscle cell protein dysregulation highlights the pathogenesis mechanism of myopathy-associated p97/VCP R155H mutations.
Not available
S-EPMC10435852 | biostudies-literature
UnknownClinical studies in familial VCP myopathy associated with Paget disease of bone and frontotemporal dementia.
Not available
S-EPMC2467391 | biostudies-literature
UnknownImmunoreactivity of valosin-containing protein in sporadic amyotrophic lateral sclerosis and in a case of its novel mutant.
Not available
S-EPMC4297454 | biostudies-literature
UnknownStructural and Functional Analysis of Disease-Linked p97 ATPase Mutant Complexes.
Not available
S-EPMC8347982 | biostudies-literature
UnknownSVIP is a molecular determinant of lysosomal dynamic stability, neurodegeneration and lifespan.
Not available
S-EPMC7820495 | biostudies-literature
UnknownRoles for the VCP co-factors Npl4 and Ufd1 in neuronal function in Drosophila melanogaster.
Not available
S-EPMC5666124 | biostudies-literature
UnknownCRISPR/Cas9-Mediated Constitutive Loss of VCP (Valosin-Containing Protein) Impairs Proteostasis and Leads to Defective Striated Muscle Structure and Function In Vivo.
Not available
S-EPMC9223409 | biostudies-literature
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