Publications:

Assessing variants of uncertain significance implicated in hearing loss using a comprehensive deafness proteome.

Human Genetics

Tollefson, Mallory R MR; Gogal, Rose A RA; Weaver, A Monique AM; Schaefer, Amanda M AM; Marini, Robert J RJ; Azaiez, Hela H; Kolbe, Diana L DL; Wang, Donghong D; Weaver, Amy E AE; Casavant, Thomas L TL; Braun, Terry A TA; Smith, Richard J H RJH; Schnieders, Michael J MJ

Publication Date: 2023-04-22

Variant appearance in text: TWNK: 956A>C; Lys319Thr

PubMed Link: 37086329

Variant Present in the following documents:

• 439_2023_2559_MOESM2_ESM.xlsx, sheet 1

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TWINKLE and Other Human Mitochondrial DNA Helicases: Structure, Function and Disease.

Genes

Peter, Bradley B; Falkenberg, Maria M

Publication Date: 2020-04-09

Variant appearance in text: PEO: K319T

PubMed Link: 32283748

Variant Present in the following documents:

• Main text
• genes-11-00408.pdf

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Peripheral neuropathy in patients with CPEO associated with single and multiple mtDNA deletions.

Neurology. Genetics

Lehmann, Diana D; Kornhuber, Malte E ME; Clajus, Carolina C; Alston, Charlotte L CL; Wienke, Andreas A; Deschauer, Marcus M; Taylor, Robert W RW; Zierz, Stephan S

Publication Date: 2016-12

Variant appearance in text: PEO1: K319T

PubMed Link: 27822509

Variant Present in the following documents:

• NG2016001925.pdf

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Reproducible Analysis of Post-Translational Modifications in Proteomes--Application to Human Mutations.

Plos One

Holehouse, Alex S AS; Naegle, Kristen M KM

Publication Date: 2015

Variant appearance in text: PEO: K319T

PubMed Link: 26659599

Variant Present in the following documents:

• pone.0144692.s002.xlsx, sheet 1

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Disease variants of the human mitochondrial DNA helicase encoded by C10orf2 differentially alter protein stability, nucleotide hydrolysis, and helicase activity.

The Journal Of Biological Chemistry

Longley, Matthew J MJ; Humble, Margaret M MM; Sharief, Farida S FS; Copeland, William C WC

Publication Date: 2010-09-24

Variant appearance in text: C10orf2: K319T

PubMed Link: 20659899

Variant Present in the following documents:

• Main text

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