Mutation in saposin D domain of sphingolipid activator protein gene causes urinary system defects and cerebellar Purkinje cell degeneration with accumulation of hydroxy fatty acid-containing ceramide in mouse

By Matsuda Junko  

Human Molecular Genetics, Vol. 13, Iss. 21, 2004-11 ,pp. : 2709-2723

Oxford University Press

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Targeted Disruption of the Mouse Sphingolipid Activator Protein Gene: A Complex Phenotype, Including Severe Leukodystrophy and Wide-Spread Storage of Multiple Sphingolipids

By Fujita Nobuya   Suzuki Kinuko   Vanier Marie T.   Popko Brian   Maeda Nobuyo   Klein Andreas   Henseler Margarete   Sandhoff Konrad   Nakayasu Hiroyuki   Suzuki Kunihiko  

Human Molecular Genetics, Vol. 5, Iss. 6, 1996-01 ,pp. : 711-725

Oxford University Press

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A CTRP5 gene S163R mutation knock-in mouse model for late-onset retinal degeneration

By Chavali Venkata R.M.   Khan Naheed W.   Cukras Catherine A.   Bartsch Dirk-Uwe   Jablonski Monica M.   Ayyagari Radha  

Human Molecular Genetics, Vol. 20, Iss. 10, 2011-05 ,pp. : 2000-2014

Oxford University Press

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Null mutation of the murine ATP7B (Wilson disease) gene results in intracellular copper accumulation and late-onset hepatic nodular transformation

By Buiakova Olesia I.  

Human Molecular Genetics, Vol. 8, Iss. 9, 1999-09 ,pp. : 1665-1671

Oxford University Press

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Mutation in a short-chain collagen gene, CTRP5 , results in extracellular deposit formation in late-onset retinal degeneration: a genetic model for age-related macular degeneration

By Hayward Caroline  

Human Molecular Genetics, Vol. 12, Iss. 20, 2003-10 ,pp. : 2657-2667

Oxford University Press

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