Genome-wide association analysis identifies a mutation in the thiamine transporter 2 (SLC19A3) gene associated with Alaskan Husky encephalopathy.

Authors: Karen M Vernau, Jonathan A Runstadler, Emily A Brown, Jessie M Cameron, Heather J Huson, Robert J Higgins, Cameron Ackerley, Beverly K Sturges, Peter J Dickinson, Birgit Puschner, Cecilia Giulivi, G Diane Shelton, Brian H Robinson, Salvatore DiMauro, Andrew W Bollen, Danika L Bannasch

Source: PLoS ONE, Vol 8, Iss 3, p e57195 (2013)

Subject Terms: Medicine, Science

File Description: electronic resource

Relation: http://europepmc.org/articles/PMC3587633?pdf=render; https://doaj.org/toc/1932-6203

Access URL: https://doaj.org/article/54ff9efd4b9c48c5898733f4f8a30621

ACMG/AMP variant classification framework in arginase 1 deficiency: Implications for birth prevalence estimates and diagnostics

Authors: Jessie M. Cameron, Mayowa Azeez Osundiji, Rory J. Olson, Bukola A. Olarewaju, Andreas Schulze

Source: Genetics in Medicine Open, Vol 2, Iss , Pp 101815- (2024)

Subject Terms: ARG1 gene, Arginase deficiency, Birth prevalence, Hyperargininemia, Variant classification, Variant pathogenicity, Genetics, QH426-470, Medicine

File Description: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2949774424009610; https://doaj.org/toc/2949-7744

Access URL: https://doaj.org/article/6460798f10a846f5867f510d67f92ae2

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LRPPRC mutation suppresses cytochrome oxidase activity by altering mitochondrial RNA transcript stability in a mouse model.

Authors: Fenghao Xu, Jane B. L. Addis, Jessie M. Cameron

Source: Biochemical Journal; Jan2012, Vol. 441 Issue 1, p275-283, 9p

Subject Terms: LEUCINE, PENTATRICOPEPTIDE repeat genes, GENETIC mutation, CYTOCHROME oxidase, MITOCHONDRIAL RNA, GENETIC transcription, MESSENGER RNA, LABORATORY mice

Disruption of a mitochondrial RNA-binding protein gene results in decreased cytochrome b expression and a marked reduction in ubiquinol–cytochrome c reductase activity in mouse heart mitochondria.

Authors: Fenghao Xu, Cameron Ackerley, Mary C. Maj, Jane B. L. Addis, Valeriy Levandovskiy, Jisoo Lee, Nevena MacKay, Jessie M. Cameron, Brian H. Robinson

Source: Biochemical Journal; Nov2008, Vol. 416 Issue 1, p15-26, 12p

Subject Terms: GENETIC research, CARRIER proteins, CYTOCHROME b, CYTOCHROME c, MITOCHONDRIA, LABORATORY mice, HEART failure, RNA metabolism

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Novel recessive mutations in COQ4 cause severe infantile cardiomyopathy and encephalopathy associated with CoQ10 deficiency

Authors: Neal Sondheimer, Stacy Hewson, Jessie M. Cameron, Gino R. Somers, Jane Dunning Broadbent, Marcello Ziosi, Catarina Maria Quinzii, Ali B. Naini

Source: Molecular Genetics and Metabolism Reports, Vol 12, Iss C, Pp 23-27 (2017)

Subject Terms: CoQ10 deficiency, CoQ4, Infantile cardiomyopathy, Encephalomyopathy, Whole exome sequencing, Medicine (General), R5-920, Biology (General), QH301-705.5

File Description: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2214426917300368; https://doaj.org/toc/2214-4269

Access URL: https://doaj.org/article/753e2cc8a6654c369b7d2bc8b9a8c4b8