References Associated with Literature Topic: Disease Gene Related Help

Becerra S, et al.  (2015) Prp40 pre-mRNA processing factor 40 homolog B (PRPF40B) associates with SF1 and U2AF65 and modulates alternative pre-mRNA splicing in vivo. RNA 21(3):438-57
Cassandrini D, et al.  (2013) Pontocerebellar hypoplasia type 6 caused by mutations in RARS2: definition of the clinical spectrum and molecular findings in five patients. J Inherit Metab Dis 36(1):43-53
Chadderton N, et al.  (2013) Intravitreal delivery of AAV-NDI1 provides functional benefit in a murine model of Leber hereditary optic neuropathy. Eur J Hum Genet 21(1):62-8
Doimo M, et al.  (2013) Functional analysis of missense mutations of OAT, causing gyrate atrophy of choroid and retina. Hum Mutat 34(1):229-36
Tanji K, et al.  (2013) Alteration of autophagosomal proteins in the brain of multiple system atrophy. Neurobiol Dis 49():190-8
Wongkittichote P, et al.  (2013) Prediction of the functional effect of novel SLC25A13 variants using a S. cerevisiae model of AGC2 deficiency. J Inherit Metab Dis 36(5):821-30
Bailey UM, et al.  (2012) Analysis of congenital disorder of glycosylation-Id in a yeast model system shows diverse site-specific under-glycosylation of glycoproteins. J Proteome Res 11(11):5376-83
Blackman RK, et al.  (2012) Mitochondrial electron transport is the cellular target of the oncology drug elesclomol. PLoS One 7(1):e29798
Borck G, et al.  (2012) eIF2? mutation that disrupts eIF2 complex integrity links intellectual disability to impaired translation initiation. Mol Cell 48(4):641-6
Braunholz D, et al.  (2012) Isolated NIBPL missense mutations that cause Cornelia de Lange syndrome alter MAU2 interaction. Eur J Hum Genet 20(3):271-6
Bricker DK, et al.  (2012) A mitochondrial pyruvate carrier required for pyruvate uptake in yeast, Drosophila, and humans. Science 337(6090):96-100
Bulteau AL, et al.  (2012) Changes in mitochondrial glutathione levels and protein thiol oxidation in ?yfh1 yeast cells and the lymphoblasts of patients with Friedreich's ataxia. Biochim Biophys Acta 1822(2):212-25
Cartwright BR and Goodman JM  (2012) Seipin: from human disease to molecular mechanism. J Lipid Res 53(6):1042-55
Cederquist GY, et al.  (2012) An inherited TUBB2B mutation alters a kinesin-binding site and causes polymicrogyria, CFEOM and axon dysinnervation. Hum Mol Genet 21(26):5484-99
Chen X and Burgoyne RD  (2012) Identification of common genetic modifiers of neurodegenerative diseases from an integrative analysis of diverse genetic screens in model organisms. BMC Genomics 13(1):71
Chesi A, et al.  (2012) The Role of the Parkinson's Disease Gene PARK9 in Essential Cellular Pathways and the Manganese Homeostasis Network in Yeast. PLoS One 7(3):e34178
Cotticelli MG, et al.  (2012) Primary and secondary drug screening assays for Friedreich ataxia. J Biomol Screen 17(3):303-13
Duennwald ML  (2012) Growth assays to assess polyglutamine toxicity in yeast.LID - 10.3791/3461 [doi]LID - 3461 [pii] J Vis Exp (61)
Fabre A, et al.  (2012) SKIV2L mutations cause syndromic diarrhea, or trichohepatoenteric syndrome. Am J Hum Genet 90(4):689-92
Feng Y, et al.  (2012) Structural insight into the type-II mitochondrial NADH dehydrogenases. Nature 491(7424):478-82
Fuller K and Rhodes J  (2012) Protein kinase A and fungal virulence: a sinister side to a conserved nutrient sensing pathway. Virulence 3(2):109-21
Garcia-Diaz B, et al.  (2012) Infantile encephaloneuromyopathy and defective mitochondrial translation are due to a homozygous RMND1 mutation. Am J Hum Genet 91(4):729-36
Garcia-Rodriguez N, et al.  (2012) Impaired manganese metabolism causes mitotic misregulation. J Biol Chem 287(22):18717-29
Ghezzi D, et al.  (2012) Mutations of the mitochondrial-tRNA modifier MTO1 cause hypertrophic cardiomyopathy and lactic acidosis. Am J Hum Genet 90(6):1079-87
Goswami AV, et al.  (2012) Enhanced J-protein interaction and compromised protein stability of mtHsp70 variants lead to mitochondrial dysfunction in Parkinson's disease. Hum Mol Genet 21(15):3317-32
Guy MP, et al.  (2012) Yeast Trm7 interacts with distinct proteins for critical modifications of the tRNAPhe anticodon loop. RNA 18(10):1921-33
Hofmann J, et al.  (2012) Creutzfeldt-Jakob disease and mad cows: lessons learnt from yeast cells. Swiss Med Wkly 142():w13505
Hoose SA, et al.  (2012) A systematic analysis of cell cycle regulators in yeast reveals that most factors act independently of cell size to control initiation of division. PLoS Genet 8(3):e1002590
Jones AW, et al.  (2012) PGC-1 family coactivators and cell fate: roles in cancer, neurodegeneration, cardiovascular disease and retrograde mitochondria-nucleus signalling. Mitochondrion 12(1):86-99
Kapoor V, et al.  (2012) Deregulation of Beclin 1 in patients with tobacco-related oral squamous cell carcinoma. Biochem Biophys Res Commun 422(4):764-9