On the wrong DNA track: Molecular mechanisms of repeat-mediated genome instability

AN Khristich, SM Mirkin - Journal of Biological Chemistry, 2020 - ASBMB
Expansions of simple tandem repeats are responsible for almost 50 human diseases, the
majority of which are severe, degenerative, and not currently treatable or preventable. In this …

Autism: The phenotype in relatives

A Bailey, S Palferman, L Heavey… - Journal of autism and …, 1998 - Springer
There is broad agreement that genetic influences are central in the development of
idiopathic autism. Whether relatives manifest genetically related milder phenotypes, and if …

A novel membrane glycoprotein, SHPS-1, that binds the SH2-domain-containing protein tyrosine phosphatase SHP-2 in response to mitogens and cell adhesion

Y Fujioka, T Matozaki, T Noguchi… - … and cellular biology, 1996 - Am Soc Microbiol
Protein tyrosine phosphatases (PTPases), such as SHP-1 and SHP-2, that contain Src
homology 2 (SH2) domains play important roles in growth factor and cytokine signal …

Tumors associated with p53 germline mutations: a synopsis of 91 families.

P Kleihues, B Schäuble, A zur Hausen… - The American journal …, 1997 - ncbi.nlm.nih.gov
Although inherited p53 mutations are present in all somatic cells, malignant transformation is
limited to certain organs and target cells. The analysis of 475 tumors in 91 families with p53 …

Long Polyglutamine Tracts in the Androgen Receptor Are Associated with Reduced Trans-Activation, Impaired Sperm Production, and Male Infertility

TG Tut, FJ Ghadessy, MA Trifiro… - The Journal of …, 1997 - academic.oup.com
The X-linked androgen receptor (AR) gene contains two polymorphic trinucleotide repeat
segments that code for polyglutamine and polyglycine tracts in the N-terminal trans …

Intranuclear neuronal inclusions in Huntington's disease and Dentatorubral and Pallidoluysian atrophy: correlation between the density of inclusions andIT15CAG …

MW Becher, JA Kotzuk, AH Sharp, SW Davies… - Neurobiology of …, 1998 - Elsevier
Huntington's disease (HD) is caused by CAG triplet repeat expansion inIT15which leads to
polyglutamine stretches in the HD protein product, huntingtin. The pathological hallmark of …

Huntingtin aggregates may not predict neuronal death in Huntington's disease

S Kuemmerle, CA Gutekunst, AM Klein, XJ Li… - Annals of …, 1999 - Wiley Online Library
The mechanism by which polyglutamine expansion in Huntington's disease (HD) results in
selective neuronal degeneration remains unclear. We previously reported that the …

Increased 8,12‐iso‐iPF‐VI in Alzheimer's disease: Correlation of a noninvasive index of lipid peroxidation with disease severity

D Praticò, CM Clark, VMY Lee… - Annals of …, 2000 - Wiley Online Library
Abstract The isoprostane 8, 12‐iso‐iPF2α‐VI is a sensitive and specific marker of in vivo
lipid peroxidation. We found elevated levels in the urine, blood, and cerebrospinal fluid of …

What drives codon choices in human genes?

S Karlin, J Mrázek - Journal of molecular biology, 1996 - Elsevier
Synonymous codon usage is biased and the bias seems to be different in different
organisms. Factors with proposed roles in causing codon bias include degree and timing of …

Chronology of behavioral symptoms and neuropathological sequela in R6/2 Huntington's disease transgenic mice

EC Stack, JK Kubilus, K Smith… - Journal of …, 2005 - Wiley Online Library
Genetic murine models play an important role in the study of human neurological disorders
by providing accurate and experimentally accessible systems to study pathogenesis and to …