Mucolipidosis type IV is caused by mutations in a gene encoding a novel transient receptor potential channel

By Sun Mei  

Human Molecular Genetics, Vol. 9, Iss. 17, 2000-10 ,pp. : 2471-2478

Oxford University Press

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Molecular pathophysiology of mucolipidosis type IV: pH dysregulation of the mucolipin-1 cation channel

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Human Molecular Genetics, Vol. 13, Iss. 6, 2004-03 ,pp. : 617-627

Oxford University Press

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Impaired proteolysis underlies autophagic dysfunction in Niemann–Pick type C disease

By Elrick Matthew J.   Yu Ting   Chung Chan   Lieberman Andrew P.  

Human Molecular Genetics, Vol. 21, Iss. 22, 2012-11 ,pp. : 4876-4887

Oxford University Press

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Depletion of type IA regulatory subunit (RIα) of protein kinase A (PKA) in mammalian cells and tissues activates mTOR and causes autophagic deficiency

By Mavrakis Manos   Lippincott-Schwartz Jennifer   Stratakis Constantine A.   Bossis Ioannis  

Human Molecular Genetics, Vol. 15, Iss. 19, 2006-10 ,pp. : 2962-2971

Oxford University Press

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A syndactyly type IV locus maps to 7q36

By Sato Daisuke   Liang Desheng   Wu Lingqian   Pan Qian   Xia Kun   Dai Heping   Wang Hua   Nishimura Gen   Yoshiura Koh-Ichiro   Xia Jiahui   Niikawa Norio  

Journal of Human Genetics, Vol. 52, Iss. 6, 2007-06 ,pp. : 561-564

Springer Publishing Company

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