Mutant SPTLC1 dominantly inhibits serine palmitoyltransferase activity in vivo and confers an age-dependent neuropathy

By McCampbell Alexander  

Human Molecular Genetics, Vol. 14, Iss. 22, 2005-11 ,pp. : 3507-3521

Oxford University Press

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Atp13a2-deficient mice exhibit neuronal ceroid lipofuscinosis, limited α-synuclein accumulation and age-dependent sensorimotor deficits

By Schultheis Patrick J.   Fleming Sheila M.   Clippinger Amy K.   Lewis Jada   Tsunemi Taiji   Giasson Benoit   Dickson Dennis W.   Mazzulli Joseph R.   Bardgett Mark E.   Haik Kristi L.   Ekhator Osunde   Chava Anil Kumar   Howard John   Gannon Matt   Hoffman Elizabeth   Chen Yinhuai   Prasad Vikram   Linn Stephen C.   Tamargo Rafael J.   Westbroek Wendy   Sidransky Ellen   Krainc Dimitri   Shull Gary E.  

Human Molecular Genetics, Vol. 22, Iss. 10, 2013-05 ,pp. : 2067-2082

Oxford University Press

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Transgenic mice harboring a full-length human mutant DRPLA gene exhibit age-dependent intergenerational and somatic instabilities of CAG repeats comparable with those in DRPLA patients

By Ishida Y.  

Human Molecular Genetics, Vol. 8, Iss. 1, 1999-01 ,pp. : 99-106

Oxford University Press

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Genetic analysis of extended life span in Drosophila melanogaster I. RAPD screen for genetic divergence between selected and control lines

By Curtsinger J.W.   Fukui H.H.   Resler A.S.   Kelly K.   Khazaeli A.A.  

Genetica, Vol. 104, Iss. 1, 1998-10 ,pp. : 21-32

Springer Publishing Company

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Genetic analysis of extended life span in Drosophila melanogaster II. Replication of the backcross test and molecular characterization of the N14 Locus

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Genetica, Vol. 104, Iss. 1, 1998-10 ,pp. : 33-39

Springer Publishing Company

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