Works matching IS 09646906 AND DT 2015 AND VI 24 AND IP 22
Results: 24
F-box protein 7 mutations promote protein aggregation in mitochondria and inhibit mitophagy.
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- Human Molecular Genetics, 2015, v. 24, n. 22, p. 6314, doi. 10.1093/hmg/ddv340
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- Article
Repeated low doses of morpholino antisense oligomer: an intermediate mouse model of spinal muscular atrophy to explore the window of therapeutic response.
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- Human Molecular Genetics, 2015, v. 24, n. 22, p. 6265, doi. 10.1093/hmg/ddv329
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Muscle weakness in TPM3-myopathy is due to reduced Ca<sup>2+</sup>-sensitivity and impaired acto-myosin cross-bridge cycling in slow fibres.
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- Human Molecular Genetics, 2015, v. 24, n. 22, p. 6278, doi. 10.1093/hmg/ddv334
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A novel conditional knock-in approach de nes molecular and circuit effects of the DYT1 dystonia mutation.
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- Human Molecular Genetics, 2015, v. 24, n. 22, p. 6459, doi. 10.1093/hmg/ddv355
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CORRIGENDUM.
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- Human Molecular Genetics, 2015, v. 24, n. 22, p. 6564, doi. 10.1093/hmg/ddv365
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- Article
CDC174, a novel component of the exon junction complex whose mutation underlies a syndrome of hypotonia and psychomotor developmental delay.
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- Human Molecular Genetics, 2015, v. 24, n. 22, p. 6485, doi. 10.1093/hmg/ddv357
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Characterization of clinically identified mutations in NDUFV1, the flavin-binding subunit of respiratory complex I, using a yeast model system.
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- Human Molecular Genetics, 2015, v. 24, n. 22, p. 6350, doi. 10.1093/hmg/ddv344
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Bcl-2/adenovirus E1B 19-kDa interacting protein (BNip3) has a key role in the mitochondrial dysfunction induced by mutant huntingtin.
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- Human Molecular Genetics, 2015, v. 24, n. 22, p. 6530, doi. 10.1093/hmg/ddv362
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Vapb/Amyotrophic lateral sclerosis 8 knock-in mice display slowly progressive motor behavior defects accompanying ER stress and autophagic response.
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- Human Molecular Genetics, 2015, v. 24, n. 22, p. 6515, doi. 10.1093/hmg/ddv360
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Homozygous mutation in the eukaryotic translation initiation factor 2alpha phosphatase gene, PPP1R15B, is associated with severe microcephaly, short stature and intellectual disability.
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- Human Molecular Genetics, 2015, v. 24, n. 22, p. 6293, doi. 10.1093/hmg/ddv337
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Genetic dissection of the Down syndrome critical region.
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- Human Molecular Genetics, 2015, v. 24, n. 22, p. 6540, doi. 10.1093/hmg/ddv364
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Genetic variants and cellular stressors associated with exfoliation syndrome modulate promoter activity of a lncRNA within the LOXL1 locus.
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- Human Molecular Genetics, 2015, v. 24, n. 22, p. 6552, doi. 10.1093/hmg/ddv347
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Synonymous variants in HTRA1 implicated in AMD susceptibility impair its capacity to regulate TGF-β signaling.
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- Human Molecular Genetics, 2015, v. 24, n. 22, p. 6361, doi. 10.1093/hmg/ddv346
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Mitochondrial ATP synthase activity is impaired by suppressed O-GlcNAcylation in Alzheimer's disease.
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- Human Molecular Genetics, 2015, v. 24, n. 22, p. 6492, doi. 10.1093/hmg/ddv358
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- Article
A novel mouse model for ataxia-telangiectasia with a N-terminal mutation displays a behavioral defect and a low incidence of lymphoma but no increased oxidative burden.
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- Human Molecular Genetics, 2015, v. 24, n. 22, p. 6331, doi. 10.1093/hmg/ddv342
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Human recombinant arginase enzyme reduces plasma arginine in mouse models of arginase deficiency.
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- Human Molecular Genetics, 2015, v. 24, n. 22, p. 6417, doi. 10.1093/hmg/ddv352
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Ultra-structural time-course study in the C. elegans model for Duchenne muscular dystrophy highlights a crucial role for sarcomere-anchoring structures and sarcolemma integrity in the earliest steps of the muscle degeneration process.
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- Human Molecular Genetics, 2015, v. 24, n. 22, p. 6428, doi. 10.1093/hmg/ddv353
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A novel porcine model of ataxia telangiectasia reproduces neurological features and motor deficits of human disease.
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- Human Molecular Genetics, 2015, v. 24, n. 22, p. 6473, doi. 10.1093/hmg/ddv356
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High-dose folic acid supplementation alters the human sperm methylome and is influenced by the MTHFR C677T polymorphism.
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- Human Molecular Genetics, 2015, v. 24, n. 22, p. 6301, doi. 10.1093/hmg/ddv338
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Accelerated reproductive aging in females lacking a novel centromere protein SYCP2L.
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- Human Molecular Genetics, 2015, v. 24, n. 22, p. 6505, doi. 10.1093/hmg/ddv359
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Long-term rescue of cone photoreceptor degeneration in retinitis pigmentosa 2 (RP2)-knockout mice by gene replacement therapy.
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- Human Molecular Genetics, 2015, v. 24, n. 22, p. 6446, doi. 10.1093/hmg/ddv354
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The twenty-four KDa C-terminal tau fragment increases with aging in tauopathy mice: implications of prion-like properties.
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- Human Molecular Genetics, 2015, v. 24, n. 22, p. 6403, doi. 10.1093/hmg/ddv351
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De novo inbred heterozygous Zeb2/Sip1 mutant mice uniquely generated by germ-line conditional knockout exhibit craniofacial, callosal and behavioral defects associated with Mowat-Wilson syndrome.
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- Human Molecular Genetics, 2015, v. 24, n. 22, p. 6390, doi. 10.1093/hmg/ddv350
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Common and specific effects of TIE2 mutations causing venous malformations.
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- Human Molecular Genetics, 2015, v. 24, n. 22, p. 6374, doi. 10.1093/hmg/ddv349
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