Expression and functional characterization of missense mutations in ATP8A2 linked to severe neurological disorders

Identification and functional analyses of disease-associated P4-ATPase phospholipid flippase variants in red blood cells

(2019) Angela Y. Liou et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Asparagine-905 of the mammalian phospholipid flippase ATP8A2 is essential for lipid substrate-induced activation of ATP8A2 dephosphorylation

(2019) Stine A. Mikkelsen et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Structure and Function of the 26S Proteasome

(2018) Jared A.M. Bard et al.   Annual Review of Biochemistry

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

(2018) Hugh J. McMillan et al.   Orphanet Journal of Rare Diseases

Proteomic Analysis and Functional Characterization of P4-ATPase Phospholipid Flippases from Murine Tissues

(2018) Jiao Wang et al.   Scientific Reports

C-terminus of the P4-ATPase ATP8A2 functions in protein folding and regulation of phospholipid flippase activity

(2017) Madhavan Chalat et al.   MOLECULAR BIOLOGY OF THE CELL

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

(2016) Elena Martín-Hernández et al.   NEUROGENETICS

P4-ATPases as Phospholipid Flippases—Structure, Function, and Enigmas

(2016) Jens P. Andersen et al.   Frontiers in Physiology

Transport through recycling endosomes requires EHD1 recruitment by a phosphatidylserine translocase

(2015) S. Lee et al.   EMBO JOURNAL

Phospholipid Flippase Activities and Substrate Specificities of Human Type IV P-type ATPases Localized to the Plasma Membrane

(2014) Hiroyuki Takatsu et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

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

Critical roles of isoleucine-364 and adjacent residues in a hydrophobic gate control of phospholipid transport by the mammalian P4-ATPase ATP8A2

(2014) A. L. Vestergaard et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

P4-ATPases: lipid flippases in cell membranes

(2013) Rosa L. Lopez-Marques et al.   PFLUGERS ARCHIV-EUROPEAN JOURNAL OF PHYSIOLOGY

Phospholipid flippases: Building asymmetric membranes and transport vesicles

(2012) Tessy T. Sebastian et al.   BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR AND CELL BIOLOGY OF LIPIDS

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

Critical role of a transmembrane lysine in aminophospholipid transport by mammalian photoreceptor P4-ATPase ATP8A2

(2012) J. A. Coleman et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Mutations in a P-Type ATPase Gene Cause Axonal Degeneration

(2012) Xianjun Zhu et al.   PLoS Genetics

A practical guide to evaluating colocalization in biological microscopy

(2011) Kenneth W. Dunn et al.   AMERICAN JOURNAL OF PHYSIOLOGY-CELL PHYSIOLOGY

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

Heteromeric Interactions Required for Abundance and Subcellular Localization of Human CDC50 Proteins and Class 1 P4-ATPases

(2010) Lieke M. van der Velden et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Differential effects of progressive familial intrahepatic cholestasis type 1 and benign recurrent intrahepatic cholestasis type 1 mutations on canalicular localization of ATP8B1

(2009) Dineke E. Folmer et al.   HEPATOLOGY

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

Cdc50p Plays a Vital Role in the ATPase Reaction Cycle of the Putative Aminophospholipid Transporter Drs2p

(2009) Guillaume Lenoir et al.   JOURNAL OF BIOLOGICAL CHEMISTRY