Varaico: Literature-Extracted Genetic Variants

Gene:PSAP
Variant:p.V31V
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PSAP

NM_002778.4:p.V31V

Associated Papers

Computational Search for Inhibitors of SOD1 Mutant Infectivity as Potential Therapeutics for ALS Disease.

Carnaroli M et al.

International Journal of Molecular Sciences, 2025

Amyotrophic Lateral Sclerosis Genes in Drosophila melanogaster.

Layalle S et al.

International Journal of Molecular Sciences, 2021

Preserving neuromuscular synapses in ALS by stimulating MuSK with a therapeutic agonist antibody.

Cantor S et al.

Elife, 2018

Expression of wild-type human superoxide dismutase-1 in mice causes amyotrophic lateral sclerosis.

Graffmo KS et al.

Human Molecular Genetics, 2013

SOD1 and DJ-1 converge at Nrf2 pathway: a clue for antioxidant therapeutic potential in neurodegeneration.

Milani P et al.

Oxidative Medicine and Cellular Longevity, 2013

Sorting of the yeast vacuolar-type, proton-translocating ATPase enzyme complex (V-ATPase): identification of a necessary and sufficient Golgi/endosomal retention signal in Stv1p.

Finnigan GC et al.

The Journal of Biological Chemistry, 2012

Misfolded superoxide dismutase-1 in CSF from amyotrophic lateral sclerosis patients.

Zetterström P et al.

Journal of Neurochemistry, 2011

Dorfin ameliorates phenotypes in a transgenic mouse model of amyotrophic lateral sclerosis.

Sone J et al.

Journal of Neuroscience Research, 2010

Proteomic characterization of lipid raft proteins in amyotrophic lateral sclerosis mouse spinal cord.

Zhai J et al.

The Febs Journal, 2009

Destabilizing protein polymorphisms in the genetic background direct phenotypic expression of mutant SOD1 toxicity.

Gidalevitz T et al.

Plos Genetics, 2009

Genetic polymorphisms of selected DNA repair genes, estrogen and progesterone receptor status, and breast cancer risk.

Lee KM et al.

Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2005

Residues of VP26 of herpes simplex virus type 1 that are required for its interaction with capsids.

Desai P et al.

Journal of Virology, 2003

Identification of functionally important residues of the epidermal growth factor-2 domain of factor IX by alanine-scanning mutagenesis. Residues Asn(89)-Gly(93) are critical for binding factor VIIIa.

Chang YJ et al.

The Journal of Biological Chemistry, 2002

Neuron-specific expression of mutant superoxide dismutase 1 in transgenic mice does not lead to motor impairment.

Pramatarova A et al.

The Journal of Neuroscience : the Official Journal of the Society for Neuroscience, 2001

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."