Varaico: Literature-Extracted Genetic Variants

Gene:PMP22
Variant:p.T23S
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PMP22

NM_000304.4:p.T23S

Associated Papers

Disrupting the transmembrane domain interface between PMP22 and MPZ causes peripheral neuropathy.

Pashkova N et al.

Iscience, 2024

Disrupting the transmembrane domain interface between PMP22 and MPZ causes peripheral neuropathy.

Pashkova N et al.

Biorxiv : the Preprint Server for Biology, 2024

Roles for PMP22 in Schwann cell cholesterol homeostasis in health and disease.

Stefanski KM et al.

Biochemical Society Transactions, 2024

Ion mobility-mass spectrometry reveals the role of peripheral myelin protein dimers in peripheral neuropathy.

Fantin SM et al.

Proceedings of the National Academy of Sciences of the United States of America, 2021

Direct relationship between increased expression and mistrafficking of the Charcot-Marie-Tooth-associated protein PMP22.

Marinko JT et al.

The Journal of Biological Chemistry, 2020

Peripheral myelin protein 22 preferentially partitions into ordered phase membrane domains.

Marinko JT et al.

Proceedings of the National Academy of Sciences of the United States of America, 2020

A Computational Approach to Identify a Potential Alternative Drug With Its Positive Impact Toward PMP22.

Agrahari AK et al.

Journal of Cellular Biochemistry, 2017

Conformational Stability and Pathogenic Misfolding of the Integral Membrane Protein PMP22.

Schlebach JP et al.

Journal of the American Chemical Society, 2015

The homology model of PMP22 suggests mutations resulting in peripheral neuropathy disrupt transmembrane helix packing.

Mittendorf KF et al.

Biochemistry, 2014

25243937 (PubMed )
Supplement: bi500809t_si_001.pdf

Computational Analysis Reveals the Association of Threonine 118 Methionine Mutation in PMP22 Resulting in CMT-1A.

Kumar CV et al.

Advances in Bioinformatics, 2014

A family with a novel frameshift mutation in the PMP22 gene (c.433_434insC) causing a phenotype of hereditary neuropathy with liability to pressure palsies.

Zéphir H et al.

Neuromuscular Disorders : Nmd, 2005

Glycosylation limits forward trafficking of the tetraspan membrane protein PMP22.

Marinko JT et al.

The Journal of Biological Chemistry, 0

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