Spinocerebellar ataxia: an update

R Sullivan, WY Yau, E O'Connor, H Houlden - Journal of neurology, 2019 - Springer
Spinocerebellar ataxia (SCA) is a heterogeneous group of neurodegenerative ataxic
disorders with autosomal dominant inheritance. We aim to provide an update on the recent …

Maintaining genome stability at the replication fork

D Branzei, M Foiani - Nature reviews Molecular cell biology, 2010 - nature.com
Aberrant DNA replication is a major source of the mutations and chromosome
rearrangements that are associated with pathological disorders. When replication is …

DNA: structure and function

RR Sinden, CE Pearson, VN Potaman… - Advances in genome …, 1998 - Elsevier
Publisher Summary This chapter discusses the structure and function of DNA. DNA occupies
a critical role in cells, because it is the source of all intrinsic genetic information. Chemically …

Bacterial genome instability

E Darmon, DRF Leach - Microbiology and Molecular Biology …, 2014 - Am Soc Microbiol
Bacterial genomes are remarkably stable from one generation to the next but are plastic on
an evolutionary time scale, substantially shaped by horizontal gene transfer, genome …

Integrons

G Cambray, AM Guerout, D Mazel - Annual review of genetics, 2010 - annualreviews.org
Integrons are genetic elements able to acquire and rearrange open reading frames (ORFs)
embedded in gene cassette units and convert them to functional genes by ensuring their …

DNA mismatch repair: functions and mechanisms

RR Iyer, A Pluciennik, V Burdett, PL Modrich - Chemical reviews, 2006 - ACS Publications
Mutations are rare events, occurring spontaneously at a frequency of 1 per 109-1010 base
pairs per cell division. 1, 2 Nucleotide misincorporation during DNA synthesis yields …

[HTML][HTML] A DNA replication mechanism for generating nonrecurrent rearrangements associated with genomic disorders

JA Lee, CMB Carvalho, JR Lupski - cell, 2007 - cell.com
The prevailing mechanism for recurrent and some nonrecurrent rearrangements causing
genomic disorders is nonallelic homologous recombination (NAHR) between region-specific …

Cloning of the β cell high-affinity sulfonylurea receptor: a regulator of insulin secretion

L Aguilar-Bryan, CG Nichols, SW Wechsler… - Science, 1995 - science.org
Sulfonylureas are a class of drugs widely used to promote insulin secretion in the treatment
of non-insulin-dependent diabetes mellitus. These drugs interact with the sulfonylurea …

Replication fork stalling at natural impediments

EV Mirkin, SM Mirkin - Microbiology and molecular biology …, 2007 - Am Soc Microbiol
Accurate and complete replication of the genome in every cell division is a prerequisite of
genomic stability. Thus, both prokaryotic and eukaryotic replication forks are extremely …

Signal sequence trap: a cloning strategy for secreted proteins and type I membrane proteins

K Tashiro, H Tada, R Heilker, M Shirozu, T Nakano… - Science, 1993 - science.org
A method was developed to clone, without the use of specific functional assays,
complementary DNAs (cDNAs) that carry specific amino-terminal signal sequences, such as …