A mutation in the vesicle-trafficking protein VAPB causes late-onset spinal muscular atrophy and amyotrophic lateral sclerosis.

By A. Nishimura, M. Mitne-Neto, H. Silva, A. Richieri‐Costa, S. Middleton, D. Cascio, F. Kok, João R. M. Oliveira, T. Gillingwater, Jeanette Webb and 2 more. American Journal of Human Genetics, 2004

1,018 citations recorded by the source corpus.

Subfields: Cellular and Molecular Neuroscience, Genetics, Neurology

View Paper: https://www.semanticscholar.org/paper/c8722320462ba754fd18602765224933025d8186

How researchers see this paper

The researchers whose trusted networks rank it highest, strongest advocate first. Every researcher gets a different order.

In Genetics

1. Robert H. Brown
2. P. Pasinelli

In Neurology

1. P. Shaw
2. Robert H. Brown
3. S. Barber
4. P. Pasinelli

Citations in the corpus

• Molecular biology of amyotrophic lateral sclerosis: insights from genetics (2006, background): “, synaptobrevin/VAMP (vesicle-associated membrane protein)-associated protein B ( VAPB”
• Converging mechanisms in ALS and FTD: Disrupted RNA and protein homeostasis (2013, neutral): “Transport of ubiquinated proteins to proteasome polyubiquitin p62 UBQLN2 misfolded proteins Target specification for autophagy LC3 LC3 LC3 adaptor adaptor phagophore p62 p62 OPTN Sorting endosomal cargo for degradation CHMP2B ESCRT III cell membrane protein ubiquitin to autophagy protein aggregates ”
• Oxidative stress in ALS: key role in motor neuron injury and therapeutic target. (2010, background): “Other genes in which mutations can lead to adult-onset ALS include fused in sarcoma/translated in liposarcoma (FUS/TLS) [9] [10], TAR DNA-binding protein (TDP-43) [11] [12], charged multivesicular body protein 2B (CHMP2B) [13], vesicle-associated membrane protein (synaptobrevin-associated protein ) ”