Associated Papers
Novel variants in critical domains of ATP8A2 and expansion of clinical spectrum.
Heidari E et al.
Human Mutation, 2021
A Role of Phosphatidylserine in the Function of Recycling Endosomes.
Hasegawa J et al.
Frontiers in Cell and Developmental Biology, 2021
A novel homozygous variant in an Iranian pedigree with cerebellar ataxia, mental retardation, and dysequilibrium syndrome type 4.
Mohamadian M et al.
Journal of Clinical Laboratory Analysis, 2020
ATP8A2-related disorders as recessive cerebellar ataxia.
Guissart C et al.
Journal of Neurology, 2020
Expression and functional characterization of missense mutations in ATP8A2 linked to severe neurological disorders.
Choi H et al.
Human Mutation, 2019
Identification and functional analyses of disease-associated P4-ATPase phospholipid flippase variants in red blood cells.
Liou AY et al.
The Journal of Biological Chemistry, 2019
Asparagine 905 of the mammalian phospholipid flippase ATP8A2 is essential for lipid substrate-induced activation of ATP8A2 dephosphorylation.
Mikkelsen SA et al.
The Journal of Biological Chemistry, 2019
Autozygome and high throughput confirmation of disease genes candidacy.
Maddirevula S et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2019
Structure and function analysis of the C. elegans aminophospholipid translocase TAT-1.
Chen YZ et al.
Journal of Cell Science, 2019
Disruption of Tmem30a results in cerebellar ataxia and degeneration of Purkinje cells.
Yang Y et al.
Cell Death & Disease, 2018
Recessive mutations in ATP8A2 cause severe hypotonia, cognitive impairment, hyperkinetic movement disorders and progressive optic atrophy.
McMillan HJ et al.
Orphanet Journal of Rare Diseases, 2018
Further Delineation of the Clinical Phenotype of Cerebellar Ataxia, Mental Retardation, and Disequilibrium Syndrome Type 4.
Alsahli S et al.
Journal of Central Nervous System Disease, 2018
Loss of Tmem30a leads to photoreceptor degeneration.
Zhang L et al.
Scientific Reports, 2017
New ATP8A2 gene mutations associated with a novel syndrome: encephalopathy, intellectual disability, severe hypotonia, chorea and optic atrophy.
Martín-Hernández E et al.
Neurogenetics, 2016
Transport through recycling endosomes requires EHD1 recruitment by a phosphatidylserine translocase.
Lee S et al.
The Embo Journal, 2015
Phospholipid flippase ATP8A2 is required for normal visual and auditory function and photoreceptor and spiral ganglion cell survival.
Coleman JA et al.
Journal of Cell Science, 2014
Missense mutation in the ATPase, aminophospholipid transporter protein ATP8A2 is associated with cerebellar atrophy and quadrupedal locomotion.
Onat OE et al.
European Journal of Human Genetics : Ejhg, 2013