New ATP8A2 gene mutations associated with a novel syndrome: encephalopathy, intellectual disability, severe hypotonia, chorea and optic atrophy

Transport through recycling endosomes requires EHD1 recruitment by a phosphatidylserine translocase

(2015) S. Lee et al.   EMBO JOURNAL

Phospholipid flippase ATP8A2 is required for normal visual and auditory function and photoreceptor and spiral ganglion cell survival

(2014) J. A. Coleman et al.   JOURNAL OF CELL SCIENCE

Whole-Exome Sequencing Identifies a Variant of the MitochondrialMT-ND1Gene Associated with Epileptic Encephalopathy: West Syndrome Evolving to Lennox-Gastaut Syndrome

(2013) Aitor Delmiro et al.   HUMAN MUTATION

Missense mutation in the ATPase, aminophospholipid transporter protein ATP8A2 is associated with cerebellar atrophy and quadrupedal locomotion

(2012) Onur Emre Onat et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

P4-ATPase ATP8A2 acts in synergy with CDC50A to enhance neurite outgrowth

(2012) Qin Xu et al.   FEBS LETTERS

Mutations in a P-Type ATPase Gene Cause Axonal Degeneration

(2012) Xianjun Zhu et al.   PLoS Genetics

P-Type ATPases

(2011) Michael G. Palmgren et al.   Annual Review of Biophysics

Critical Role of the β-Subunit CDC50A in the Stable Expression, Assembly, Subcellular Localization, and Lipid Transport Activity of the P4-ATPase ATP8A2

(2011) Jonathan A. Coleman et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Disruption of the ATP8A2 gene in a patient with a t(10;13) de novo balanced translocation and a severe neurological phenotype

(2010) Pierre Cacciagli et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

High-throughput, pooled sequencing identifies mutations in NUBPL and FOXRED1 in human complex I deficiency

(2010) Sarah E Calvo et al.   NATURE GENETICS

Localization, Purification, and Functional Reconstitution of the P4-ATPase Atp8a2, a Phosphatidylserine Flippase in Photoreceptor Disc Membranes

(2009) Jonathan A. Coleman et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Mutations in the very low-density lipoprotein receptor VLDLR cause cerebellar hypoplasia and quadrupedal locomotion in humans

(2008) T. Ozcelik et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA