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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Autophagic dysfunction in mucolipidosis type IV patients

By Vergarajauregui Silvia   Connelly Patricia S.   Daniels Mathew P.   Puertollano Rosa  

Human Molecular Genetics, Vol. 17, Iss. 17, 2008-09 ,pp. : 2723-2737

Oxford University Press

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Megalencephalic leukoencephalopathy with subcortical cysts protein 1 functionally cooperates with the TRPV4 cation channel to activate the response of astrocytes to osmotic stress: dysregulation by pathological mutations

By Lanciotti Angela   Brignone Maria S.   Molinari Paola   Visentin Sergio   De Nuccio Chiara   Macchia Gianfranco   Aiello Chiara   Bertini Enrico   Aloisi Francesca   Petrucci Tamara C.   Ambrosini Elena  

Human Molecular Genetics, Vol. 21, Iss. 10, 2012-05 ,pp. : 2166-2180

Oxford University Press

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C-termini of P/Q-type Ca 2+ channel α1A subunits translocate to nuclei and promote polyglutamine-mediated toxicity

By Kordasiewicz Holly B.   Thompson Randall M.   Clark H. Brent   Gomez Christopher M.  

Human Molecular Genetics, Vol. 15, Iss. 10, 2006-05 ,pp. : 1587-1599

Oxford University Press

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Dysregulation of human brain microtubule-associated tau mRNA maturation in myotonic dystrophy type 1

By Sergeant N.  

Human Molecular Genetics, Vol. 10, Iss. 19, 2001-09 ,pp. : 2143-2155

Oxford University Press

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