Varaico: Literature-Extracted Genetic Variants

Gene:PLP1
Variant:p.Y70*
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PLP1

NM_000533.5:p.Y70*

Associated Papers

Neurodevelopmental Implications Underpinning Hereditary Spastic Paraplegia.

Zhi Y et al.

Cns Neuroscience & Therapeutics, 2025

39932116 (PubMed )
Supplement: CNS-31-e70260-s001.xlsx › SPG2

Crystal structure of L-aspartate aminotransferase from Schizosaccharomyces pombe.

Jeong SY et al.

Plos One, 2019

Next Generation Molecular Diagnosis of Hereditary Spastic Paraplegias: An Italian Cross-Sectional Study.

D'Amore A et al.

Frontiers in Neurology, 2018

SPG2 mimicking multiple sclerosis in a family identified using next generation sequencing.

Rubegni A et al.

Journal of the Neurological Sciences, 2017

Conformational change in aspartate aminotransferase on substrate binding induces strain in the catalytic group and enhances catalysis.

Hayashi H et al.

The Journal of Biological Chemistry, 2003

Crystal structures of human mitochondrial branched chain aminotransferase reaction intermediates: ketimine and pyridoxamine phosphate forms.

Yennawar NH et al.

Biochemistry, 2002

The structure of human mitochondrial branched-chain aminotransferase.

Yennawar N et al.

Acta Crystallographica. Section D, Biological Crystallography, 2001

Cocrystallization of a mutant aspartate aminotransferase with a C5-dicarboxylic substrate analog: structural comparison with the enzyme-C4-dicarboxylic analog complex.

Oue S et al.

Journal of Biochemistry, 2000

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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."