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ProteomicsALS-related p97 R155H mutation disrupts lysophagy in iPSC-derived motor neurons
Mutations in the AAA+ ATPase p97 cause multisystem proteinopathy 1 which includes amyotrophic-lateral sclerosis; however, the pathogenic mechanisms that contribute to motor neuron loss remain obscure. Here, we use two induced pluripotent stem cell models differentiated into spinal motor neurons to i...
ORGANISM(S): Mus musculus (Mouse) Homo sapiens (Human) 
2025-09-08 | PXD048185 | Pride
Ubxd1 Lysosome Human motor neurons Cb-5083 P97 
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 
UnknownALS-related p97 R155H mutation disrupts lysophagy in iPSC-derived motor neurons.
Not available
S-EPMC10937112 | biostudies-literature
UnknownSkeletal muscle cell protein dysregulation highlights the pathogenesis mechanism of myopathy-associated p97/VCP R155H mutations.
Not available
S-EPMC10435852 | biostudies-literature
UnknownGlobal gene expression profiling in R155H knock-in murine model of VCP disease.
Not available
S-EPMC4329058 | biostudies-literature
UnknownTargeted excision of VCP R155H mutation by Cre-LoxP technology as a promising therapeutic strategy for valosin-containing protein disease.
Not available
S-EPMC4337464 | biostudies-literature
UnknownStructural insight into mutations at 155 position of valosin containing protein (VCP) linked to inclusion body myopathy with Paget disease of bone and frontotemporal Dementia.
Not available
S-EPMC8071901 | biostudies-literature
UnknownFatty links between multisystem proteinopathy and small VCP-interacting protein.
Not available
S-EPMC11310202 | biostudies-literature
UnknownGenotype-phenotype studies of VCP-associated inclusion body myopathy with Paget disease of bone and/or frontotemporal dementia.
Not available
S-EPMC3618576 | biostudies-literature
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