Chris Weihl

ALS-related p97 R155H mutation disrupts lysophagy in iPSC-derived motor neurons

Jacob A. Klickstein, Michelle A. Johnson, Pantelis Antonoudiou, Jamie Maguire et autres

Optimism in inclusion body myositis: a double-blind randomised controlled phase III trial investigating the effect of sirolimus on disease progression in patients with IBM as measured by the IBM Functional Rating Scale

Umesh A. Badrising, Robert D. Henderson, Stephen Reddel, Alastair Corbett et autres

OBJECTIVES: Inclusion body myositis (IBM) is a complex inflammatory muscle disease in adults over 40, with histological features of autoinflammation, cell stress and autophagic abnormalities, and marked clinically by relentless progression with no effective disease-modifying therapy. Sirolimus (rapamycin) may help maintain function …

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2024 VCP International Conference: Exploring multi - disciplinary approaches from basic science of valosin containing protein, an AAA+ ATPase protein , to the therapeutic advancement for VCP - associated multisystem proteinopathy

Allison Peck, Amal Dadi, Zollie Yavarow, Lindsay N. Alfano et autres

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. …

ALS-related p97 R155H mutation disrupts lysophagy in iPSC-derived motor neurons

Jacob A. Klickstein, Michelle A. Johnson, Pantelis Antonoudiou, Jamie Maguire et autres

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 …

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ALS-related p97 R155H mutation disrupts lysophagy in iPSC-derived motor neurons

Jacob A. Klickstein, Michelle A. Johnson, Pantelis Antonoudiou, Jamie Maguire et autres

Abstract Mutations in the AAA+ ATPase p97 (also known as valosin containing protein, VCP) cause multisystem proteinopathy 1 (MSP-1) which includes amyotrophic-lateral sclerosis (ALS); however, the pathogenic mechanisms that contribute to motor neuron loss in familial ALS caused by p97 mutations remain …

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Novel Mutation in VCP Causes Charcot-Marie-Tooth Type 2 (CMT2) Phenotype (I5-1.004)

Shawna Feely, Michael Gonzalez, Chris Weihl, Michael E. Shy et autres

OBJECTIVE: A novel missense mutation in VCP caused adult-onset axonal CMT in a large family. BACKGROUND: CMT2 is an inherited, axonal, peripheral neuropathy characterized by distal muscle weakness and atrophy, sensory loss, and normal or near-normal nerve conduction velocities. The genetic cause …

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Novel Mutation in VCP Causes Charcot-Marie-Tooth Type 2 (CMT2) Phenotype (S46.003)

Shawna Feely, Michael Gonzalez, Chris Weihl, Michael E. Shy et autres

OBJECTIVE: A novel missense mutation in VCP caused adult-onset axonal CMT in a large family. BACKGROUND: CMT2 is an inherited, axonal, peripheral neuropathy characterized by distal muscle weakness and atrophy, sensory loss, and normal or near-normal nerve conduction velocities. The genetic cause …

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Novel Mutation in VCP Causes Charcot-Marie-Tooth Type 2 (CMT2) Phenotype (I5-1.004)

Shawna Feely, Michael Gonzalez, Chris Weihl, Michael E. Shy et autres

OBJECTIVE: A novel missense mutation in VCP caused adult-onset axonal CMT in a large family. BACKGROUND: CMT2 is an inherited, axonal, peripheral neuropathy characterized by distal muscle weakness and atrophy, sensory loss, and normal or near-normal nerve conduction velocities. The genetic cause …

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Gene Therapy for Cerebrovascular Disease

Chris Weihl, R. Loch Macdonald, Marcus A. Stoodley, Jürgen Lüders et autres

OBJECTIVE: To review the principles of and the experimental and clinical results of gene therapy for cerebrovascular disease. METHODS: Literature review. RESULTS: Vectors for gene transfer into the brain or into the cerebral vasculature include naked plasmid deoxyribonucleic acid, cationic liposomes, and …

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