TY - JOUR
T1 - 2024 VCP International Conference
T2 - Exploring multi-disciplinary approaches from basic science of valosin containing protein, an AAA+ ATPase protein, to the therapeutic advancement for VCP-associated multisystem proteinopathy
AU - Peck, A.
AU - Dadi, A.
AU - Yavarow, Z.
AU - Alfano, L. N.
AU - Anderson, D.
AU - Arkin, M. R.
AU - Chou, T. F.
AU - D'Ambrosio, E. S.
AU - Diaz-Manera, J.
AU - Dudley, J. P.
AU - Elder, A. G.
AU - Ghoshal, N.
AU - Hart, C. E.
AU - Hart, M. M.
AU - Huryn, D. M.
AU - Johnson, A. E.
AU - Jones, K. B.
AU - Kimonis, V.
AU - Kiskinis, E.
AU - Lee, E. B.
AU - Lloyd, T. E.
AU - Mapstone, M.
AU - Martin, A.
AU - Meyer, H.
AU - Mozaffar, T.
AU - Onyike, C. U.
AU - Pfeffer, G.
AU - Pindon, A.
AU - Raman, M.
AU - Richard, I.
AU - Rubinsztein, D. C.
AU - Schiava, M.
AU - Schütz, A. K.
AU - Shen, P. S.
AU - Southworth, D. R.
AU - Staffaroni, A. M.
AU - Taralio-Gravovac, M.
AU - Weihl, C. C.
AU - Yao, Q.
AU - Ye, Y.
AU - Peck, N.
N1 - Publisher Copyright:
© 2025 The Authors
PY - 2025/4
Y1 - 2025/4
N2 - Valosin-containing protein (VCP/p97) is a ubiquitously expressed AAA+ ATPase associated with numerous protein-protein interactions and critical cellular functions including protein degradation and clearance, mitochondrial homeostasis, DNA repair and replication, cell cycle regulation, endoplasmic reticulum-associated degradation, and lysosomal functions including autophagy and apoptosis. Autosomal-dominant missense mutations in the VCP gene may result in VCP-associated multisystem proteinopathy (VCP-MSP), a rare degenerative disorder linked to heterogeneous phenotypes including inclusion body myopathy (IBM) with Paget's disease of bone (PDB) and frontotemporal dementia (FTD) or IBMPFD, amyotrophic lateral sclerosis (ALS), Alzheimer's disease (AD), parkinsonism, Charcot-Marie Tooth disease (CMT), and spastic paraplegia. The complexity of VCP-MSP makes collaboration among stakeholders essential and necessitates a multi-disciplinary approach. The 2024 VCP International Conference was hosted at Caltech between February 22 and 25. Co-organized by Cure VCP Disease and Dr. Tsui-Fen Chou, the meeting aimed to center the patient as a research partner, harmonize diverse stakeholder engagement, and bridge the gap between basic and clinical neuroscience as it relates to VCP-MSP. Over 100 multi-disciplinary experts attended, ranging from basic scientists to clinicians to patient advocates. Attendees discussed genetics and clinical presentation, cellular and molecular mechanisms underlying disease, therapeutic approaches, and strategies for future VCP research. The conference included three roundtable discussions, 29 scientific presentations, 32 scientific posters, nine patient and caregiver posters, and a closing discussion forum. The following conference proceedings summarize these sessions, highlighting both the identified gaps in knowledge and the significant strides made towards understanding and treating VCP diseases.
AB - Valosin-containing protein (VCP/p97) is a ubiquitously expressed AAA+ ATPase associated with numerous protein-protein interactions and critical cellular functions including protein degradation and clearance, mitochondrial homeostasis, DNA repair and replication, cell cycle regulation, endoplasmic reticulum-associated degradation, and lysosomal functions including autophagy and apoptosis. Autosomal-dominant missense mutations in the VCP gene may result in VCP-associated multisystem proteinopathy (VCP-MSP), a rare degenerative disorder linked to heterogeneous phenotypes including inclusion body myopathy (IBM) with Paget's disease of bone (PDB) and frontotemporal dementia (FTD) or IBMPFD, amyotrophic lateral sclerosis (ALS), Alzheimer's disease (AD), parkinsonism, Charcot-Marie Tooth disease (CMT), and spastic paraplegia. The complexity of VCP-MSP makes collaboration among stakeholders essential and necessitates a multi-disciplinary approach. The 2024 VCP International Conference was hosted at Caltech between February 22 and 25. Co-organized by Cure VCP Disease and Dr. Tsui-Fen Chou, the meeting aimed to center the patient as a research partner, harmonize diverse stakeholder engagement, and bridge the gap between basic and clinical neuroscience as it relates to VCP-MSP. Over 100 multi-disciplinary experts attended, ranging from basic scientists to clinicians to patient advocates. Attendees discussed genetics and clinical presentation, cellular and molecular mechanisms underlying disease, therapeutic approaches, and strategies for future VCP research. The conference included three roundtable discussions, 29 scientific presentations, 32 scientific posters, nine patient and caregiver posters, and a closing discussion forum. The following conference proceedings summarize these sessions, highlighting both the identified gaps in knowledge and the significant strides made towards understanding and treating VCP diseases.
KW - ATPase
KW - Inclusion body myopathy associated with Paget's disease of bone and frontotemporal dementia (IBMPFD)
KW - Motor neuron disease
KW - Multisystem proteinopathy
KW - VCP-MSP
KW - VCP/p97
KW - Valosin-containing protein (VCP)
UR - http://www.scopus.com/inward/record.url?scp=86000133257&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=86000133257&partnerID=8YFLogxK
U2 - 10.1016/j.nbd.2025.106861
DO - 10.1016/j.nbd.2025.106861
M3 - Review article
C2 - 40037468
AN - SCOPUS:86000133257
SN - 0969-9961
VL - 207
JO - Neurobiology of Disease
JF - Neurobiology of Disease
M1 - 106861
ER -
