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1,190 Newest Publications in human molecular genetics
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Absence of disturbed axonal transport in spinal and bulbar muscular atrophy
01-05-2011 | Malik, Bilal; Nirmalananthan, Niranjanan; Bilsland, Lynsey G.; La Spada, Albert R.; Hanna, Michael G.; Schiavo, Giam ..., Human Molecular Genetics, 2011
Spinal and bulbar muscular atrophy (SBMA), or Kennedy's disease, is a late-onset motor neuron disease (MND) caused by an abnormal expansion of the CAG repeat in the androgen receptor (AR) gene on the X-chromosome, encoding a polyglutamine (poly-Q) sequence in the protein product. Mutant ...
Zebrafish Fukutin family proteins link the unfolded protein response with dystroglycanopathies
01-05-2011 | Lin, Yung-Yao; White, Richard J.; Torelli, Silvia; Cirak, Sebahattin; Muntoni, Francesco; Stemple, Derek L., Human Molecular Genetics, 2011
Allelic mutations in putative glycosyltransferase genes, fukutin and fukutin-related protein (fkrp), lead to a wide range of muscular dystrophies associated with hypoglycosylation of α-dystroglycan, commonly referred to as dystroglycanopathies. Defective glycosylation affecting ...
Selective deletion of long but not short Cypher isoforms leads to late-onset dilated cardiomyopathy
01-05-2011 | Cheng, Hongqiang; Zheng, Ming; Peter, Angela K.; Kimura, Kensuke; Li, Xiaodong; Ouyang, Kunfu; Shen, Tao; Cui, Li; F ..., Human Molecular Genetics, 2011
Cypher long (CypherL) and short (CypherS) isoforms are distinguished from each other by the presence and absence of three C-terminal LIM domains, respectively. Cypher isoforms are developmentally regulated, and mutations affecting both long and short isoforms are linked to muscle disease in ...
Expanded polyglutamine domain possesses nuclear export activity which modulates subcellular localization and toxicity of polyQ disease protein via exportin-1
01-05-2011 | Chan, Wing Man; Tsoi, Ho; Wu, Chi Chung; Wong, Chi Hang; Cheng, Tat Cheung; Li, Hoi Yeung; Lau, Kwok Fai; Shaw, Pang ..., Human Molecular Genetics, 2011
Polyglutamine (polyQ) diseases are a group of late-onset, progressive neurodegenerative disorders caused by CAG trinucleotide repeat expansion in the coding region of disease genes. The cell nucleus is an important site of pathology in polyQ diseases, and transcriptional dysregulation is one ...
Broad activation of the ubiquitin–proteasome system by Parkin is critical for mitophagy
01-05-2011 | Chan, Nickie C.; Salazar, Anna M.; Pham, Anh H.; Sweredoski, Michael J.; Kolawa, Natalie J.; Graham, Robert L.J.; He ..., Human Molecular Genetics, 2011
Parkin, an E3 ubiquitin ligase implicated in Parkinson's disease, promotes degradation of dysfunctional mitochondria by autophagy. Using proteomic and cellular approaches, we show that upon translocation to mitochondria, Parkin activates the ubiquitin–proteasome system (UPS) for widespread ...
The zebrafish dag1 mutant: a novel genetic model for dystroglycanopathies
01-05-2011 | Gupta, Vandana; Kawahara, Genri; Gundry, Stacey R.; Chen, Aye T.; Lencer, Wayne I.; Zhou, Yi; Zon, Leonard I.; Kunke ..., Human Molecular Genetics, 2011
In a forward genetic approach to identify novel genes for congenital muscle diseases, a zebrafish mutant, designated patchytail, was identified that exhibits degenerating muscle fibers with impaired motility behavior. Genetic mapping identified a genomic locus containing the zebrafish ...
The COPI vesicle complex binds and moves with survival motor neuron within axons
01-05-2011 | Peter, Cyril Jayakumar; Evans, Matthew; Thayanithy, Venugopal; Taniguchi-Ishigaki, Naoko; Bach, Ingolf; Kolpak, Adri ..., Human Molecular Genetics, 2011
Spinal muscular atrophy (SMA), an inherited disease of motor neuron dysfunction, results from insufficient levels of the survival motor neuron (SMN) protein. Movement of the SMN protein as granules within cultured axons suggests that the pathogenesis of SMA may involve defects in neuronal ...
Ataxin-2 intermediate-length polyglutamine expansions in European ALS patients
01-05-2011 | Lee, Teresa; Li, Yun R.; Ingre, Caroline; Weber, Markus; Grehl, Torsten; Gredal, Ole; de Carvalho, Mamede; Meyer, Th ..., Human Molecular Genetics, 2011
Amyotrophic lateral sclerosis (ALS) is a fatal adult-onset neurodegenerative disease primarily affecting motor neurons. We recently identified intermediate-length polyglutamine (polyQ) expansions (27–33 Qs) in ataxin 2 as a genetic risk factor for sporadic ALS in North American ALS patients. ...
Maternal methyl-donor supplementation induces prolonged murine offspring colitis susceptibility in association with mucosal epigenetic and microbiomic changes
01-05-2011 | Schaible, Tiffany D.; Harris, R. Alan; Dowd, Scot E.; Smith, C. Wayne; Kellermayer, Richard, Human Molecular Genetics, 2011
Developmental epigenetic changes, such as DNA methylation, have been recognized as potential pathogenic factors in inflammatory bowel diseases, the hallmark of which is an exaggerated immune response against luminal microbes. A methyl-donor (MD) diet can modify DNA methylation at select ...
Transcription factor FOXL2 protects granulosa cells from stress and delays cell cycle: role of its regulation by the SIRT1 deacetylase
01-05-2011 | Benayoun, Bérénice A.; Georges, Adrien B.; L'Hôte, David; Andersson, Noora; Dipietromaria, Aurélie; Todeschini, Anne ..., Human Molecular Genetics, 2011
FOXL2 is a transcription factor that is essential for ovarian function and maintenance, the germline mutations of which are responsible for the Blepharophimosis Ptosis Epicanthus-inversus Syndrome (BPES), often associated with premature ovarian failure. Recent evidence has linked FOXL2 ...
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