The role of interruptions in polyQ in the pathology of SCA1

Autor: Tommaso Vannocci, Nicholas W. Wood, Suran Nethisinghe, Paola Giunti, Serena Faggiano, S E Pemble, Human Rezaei, Mary G. Sweeney, Mary B. Davis, Annalisa Pastore, Rajesh Menon

Publikováno v: PLoS Genetics
PLoS Genetics, Public Library of Science, 2013, 9 (7), ⟨10.1371/journal.pgen.1003648⟩
PLoS Genetics, Vol 9, Iss 7, p e1003648 (2013)
Plos Genetics 7 (9), . (2013)

At least nine dominant neurodegenerative diseases are caused by expansion of CAG repeats in coding regions of specific genes that result in abnormal elongation of polyglutamine (polyQ) tracts in the corresponding gene products. When above a threshold

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::04710fa3fc63e9be302acd555799e4d0
https://hal.inrae.fr/hal-02644451

Conjugation of carcinogens by 9 class glutathione S-transferases: mechanisms and relevance to variations in human risk

Autor: Ricarda Thier, S E Pemble, J B Taylor, Persmark M, F. Peter Guengerich

Publikováno v: Pharmacogenetics. 5:S103-S107

Conjugation of chemicals with glutathione (GSH) can lead to decreased or increased toxicity. A genetic deficiency in the GSH S-transferase mu class gene M1 has been hypothesized to lead to greater risk of lung cancer in smokers. Recently a gene delet

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::afaec0cc35802ed6b1661ff4d124949a
https://doi.org/10.1097/00008571-199512001-00010

Analysis of spinocerebellar ataxias due to expanded triplet repeats in Greek patients with cerebellar ataxia

Autor: Marios Panas, S E Pemble, Nicholas W. Wood, Georgios Koutsis, Henry Houlden, Athina Kladi, Mary G. Sweeney, Reema Paudel

Publikováno v: Journal of the neurological sciences. 318(1-2)

The relative frequency of different autosomal dominant cerebellar ataxias, commonly referred to as spinocerebellar ataxias (SCAs), varies considerably among populations of different ethnic origin. No data exist at present on the frequency of differen

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c75003731d96e13ab4f546fcd039f67d
https://pubmed.ncbi.nlm.nih.gov/22520093

Theta class glutathione S-transferase GSTT1 genotypes and susceptibility to cervical neoplasia: interactions with GSTM1, CYP2D6 and smoking

Autor: Charles W.E. Redman, Brian Ketterer, Anthony A. Fryer, Richard C. Strange, Peter W. Jones, Adrian Warwick, Julie Alldersea, S E Pemble, J B Taylor, Panos Sarhanis, Janice Gilford, Lilian Yengi

Publikováno v: Carcinogenesis. 15:2841-2845

The factors that determine progression of cervical intra-epithelial neoplasia (CIN) to squamous cell carcinoma (SCC) are unknown. Cigarette smoking is a risk factor, suggesting polymorphism at loci that encode carcinogen-metabolizing enzymes such as

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::33a626b2023a6c940da34e8eeff29dda
https://doi.org/10.1093/carcin/15.12.2841

The human glutathione S-transferase supergene family, its polymorphism, and its effects on susceptibility to lung cancer

Autor: Glen Talaska, S E Pemble, Nicholas P. Lang, J B Taylor, Fred F. Kadlubar, Jonathan M. Harris, David J. Meyer, Brian Ketterer

Publikováno v: Environmental Health Perspectives
Scopus-Elsevier

Cytosolic glutathione S-transferases (GSTs) are a supergene family of dimeric enzymes capable of detoxifying a number of carcinogenic electrophiles. Of the numerous components of tobacco smoke, the polycyclic aromatic hydrocarbons appear to be the pr

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::553aae8ad15658b735cc5aa3e3435807
https://doi.org/10.1289/ehp.929887