Physiological functions of the HECT family of ubiquitin ligases
D Rotin, S Kumar - Nature reviews Molecular cell biology, 2009 - nature.com
The ubiquitylation of proteins is carried out by E1, E2 and E3 (ubiquitin ligase) enzymes, and
targets them for degradation or for other cellular fates. The HECT enzymes, including Nedd4 …
targets them for degradation or for other cellular fates. The HECT enzymes, including Nedd4 …
[HTML][HTML] Mammalian HECT ubiquitin-protein ligases: biological and pathophysiological aspects
M Scheffner, S Kumar - Biochimica et Biophysica Acta (BBA)-Molecular …, 2014 - Elsevier
Members of the HECT family of E3 ubiquitin-protein ligases are characterized by a C-
terminal HECT domain that catalyzes the covalent attachment of ubiquitin to substrate …
terminal HECT domain that catalyzes the covalent attachment of ubiquitin to substrate …
The gene encoding alsin, a protein with three guanine-nucleotide exchange factor domains, is mutated in a form of recessive amyotrophic lateral sclerosis
Amyotrophic lateral sclerosis (ALS) and primary lateral sclerosis (PLS) are
neurodegenerative conditions that affect large motor neurons of the central nervous system …
neurodegenerative conditions that affect large motor neurons of the central nervous system …
Genome organization, function, and imprinting in Prader-Willi and Angelman syndromes
RD Nicholls, JL Knepper - Annual review of genomics and …, 2001 - annualreviews.org
The chromosomal region, 15q11-q13, involved in Prader-Willi and Angelman syndromes
(PWS and AS) represents a paradigm for understanding the relationships between genome …
(PWS and AS) represents a paradigm for understanding the relationships between genome …
Blue eye color in humans may be caused by a perfectly associated founder mutation in a regulatory element located within the HERC2 gene inhibiting OCA2 …
H Eiberg, J Troelsen, M Nielsen, A Mikkelsen… - Human genetics, 2008 - Springer
The human eye color is a quantitative trait displaying multifactorial inheritance. Several
studies have shown that the OCA2 locus is the major contributor to the human eye color …
studies have shown that the OCA2 locus is the major contributor to the human eye color …
E3 ubiquitin ligases
HC Ardley, PA Robinson - Essays in biochemistry, 2005 - portlandpress.com
The selectivity of the ubiquitin–26 S proteasome system (UPS) for a particular substrate
protein relies on the interaction between a ubiquitin-conjugating enzyme (E2, of which a cell …
protein relies on the interaction between a ubiquitin-conjugating enzyme (E2, of which a cell …
A single SNP in an evolutionary conserved region within intron 86 of the HERC2 gene determines human blue-brown eye color
RA Sturm, DL Duffy, ZZ Zhao, FPN Leite… - The American Journal of …, 2008 - cell.com
We have previously demonstrated that haplotypes of three single nucleotide polymorphisms
(SNPs) within the first intron of the OCA2 gene are extremely strongly associated with …
(SNPs) within the first intron of the OCA2 gene are extremely strongly associated with …
HERC2 coordinates ubiquitin-dependent assembly of DNA repair factors on damaged chromosomes
S Bekker-Jensen, JR Danielsen, K Fugger… - Nature cell …, 2010 - nature.com
Regulatory ubiquitylation is emerging as an important mechanism to protect genome
integrity in cells exposed to DNA damage,,,,,,,,. However, the spectrum of known ubiquitin …
integrity in cells exposed to DNA damage,,,,,,,,. However, the spectrum of known ubiquitin …
[HTML][HTML] An Alu transposition model for the origin and expansion of human segmental duplications
Relative to genomes of other sequenced organisms, the human genome appears
particularly enriched for large, highly homologous segmental duplications (⩾ 90% sequence …
particularly enriched for large, highly homologous segmental duplications (⩾ 90% sequence …
Circadian control of XPA and excision repair of cisplatin-DNA damage by cryptochrome and HERC2 ubiquitin ligase
TH Kang, LA Lindsey-Boltz… - Proceedings of the …, 2010 - National Acad Sciences
Cisplatin is one of the most commonly used anticancer drugs. It kills cancer cells by
damaging their DNA, and hence cellular DNA repair capacity is an important determinant of …
damaging their DNA, and hence cellular DNA repair capacity is an important determinant of …