Recessive mutations in ATP8A2 cause severe hypotonia, cognitive impairment, hyperkinetic movement disorders and progressive optic atrophy-Reference-Cited by-同舟云学术

Recessive mutations in ATP8A2 cause severe hypotonia, cognitive impairment, hyperkinetic movement disorders and progressive optic atrophy

Published:2018-05-31 Issue:1 Volume:13 Page:
ISSN:1750-1172
Container-title:Orphanet Journal of Rare Diseases
language:en
Short-container-title:Orphanet J Rare Dis

Author:

McMillan Hugh J.,Telegrafi Aida,Singleton Amanda,Cho Megan T.,Lelli Daniel,Lynn Francis C.,Griffin Julie,Asamoah Alexander,Rinne Tuula,Erasmus Corrie E.,Koolen David A.,Haaxma Charlotte A.,Keren Boris,Doummar Diane,Mignot Cyril,Thompson Islay,Velsher Lea,Dehghani Mohammadreza,Vahidi Mehrjardi Mohammad Yahya,Maroofian Reza,Tchan Michel,Simons Cas,Christodoulou John,Martín-Hernández Elena,Guillen Sacoto Maria J.,Henderson Lindsay B.,McLaughlin Heather,Molday Laurie L.,Molday Robert S.,Yoon Grace

Funder

Canadian Institutes of Health Research

National Institutes of Health

Publisher

Springer Science and Business Media LLC

Subject

Pharmacology (medical),Genetics (clinical),General Medicine

Link

http://link.springer.com/content/pdf/10.1186/s13023-018-0825-3.pdf

Reference22 articles.

1. Coleman JA, Kwok MC, Molday RS. Localization, purification, and functional reconstitution of the P4-ATPase Atp8a2, a phosphatidylserine flippase in photoreceptor disc membranes. J Biol Chemi. 2009;284(47):32670–9.

2. Van der Mark VA, Oude Elferink RPJ, Paulusma CC. P4 ATPases: flippases in health and disease. Int J Mol Sci. 2013;14:7897–922.