Defective intracellular transport and processing of OA1 is a major cause of ocular albinism type 1

By d’Addio Marilena  

Human Molecular Genetics, Vol. 9, Iss. 20, 2000-12 ,pp. : 3011-3018

Oxford University Press

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The ocular albinism type 1 (OA1) G-protein-coupled receptor functions with MART-1 at early stages of melanogenesis to control melanosome identity and composition

By Giordano Francesca   Bonetti Ciro   Surace Enrico M.   Marigo Valeria   Raposo Graa  

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The 1 subunit of the Na,K-ATPase pump interacts with megalencephalic leucoencephalopathy with subcortical cysts protein 1 (MLC1) in brain astrocytes: new insights into MLC pathogenesis

By Brignone Maria S.   Lanciotti Angela   Macioce Pompeo   Macchia Gianfranco   Gaetani Matteo   Aloisi Francesca   Petrucci Tamara C.   Ambrosini Elena  

Human Molecular Genetics, Vol. 20, Iss. 1, 2011-01 ,pp. : 90-103

Oxford University Press

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Apparent Digenic Inheritance of Waardenburg Syndrome Type 2 (WS2) and Autosomal Recessive Ocular Albinism (AROA)

By Morell R.  

Human Molecular Genetics, Vol. 6, Iss. 5, 1997-05 ,pp. : 659-664

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Insulin receptor and lipid metabolism pathology in ataxin-2 knock-out mice

By Lastres-Becker Isabel   Brodesser Susanne   Ltjohann Dieter   Azizov Mekhman   Buchmann Jana   Hintermann Edith   Sandhoff Konrad   Schrmann Annette   Nowock Joachim   Auburger Georg  

Human Molecular Genetics, Vol. 17, Iss. 10, 2008-05 ,pp. : 1465-1481

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