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

about

Loss of Tmem30a leads to photoreceptor degeneration.Disease mutations reveal residues critical to the interaction of P4-ATPases with lipid substrates.Further Delineation of the Clinical Phenotype of Cerebellar Ataxia, Mental Retardation, and Disequilibrium Syndrome Type 4.

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P2860

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

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http://www.wikidata.org/entity/Q39344248

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2016 nî lūn-bûn

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2016年の論文

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2016年論文

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2016年論文

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2016年論文

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2016年論文

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2016年論文

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2016年论文

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2016年论文

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2016年论文

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name

New ATP8A2 gene mutations asso ...... nia, chorea and optic atrophy.

@en

New ATP8A2 gene mutations asso ...... nia, chorea and optic atrophy.

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type

Item

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New ATP8A2 gene mutations asso ...... nia, chorea and optic atrophy.

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New ATP8A2 gene mutations asso ...... nia, chorea and optic atrophy.

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New ATP8A2 gene mutations asso ...... nia, chorea and optic atrophy.

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New ATP8A2 gene mutations asso ...... nia, chorea and optic atrophy.

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P1476

New ATP8A2 gene mutations asso ...... onia, chorea and optic atrophy

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P2093

Ana Camacho

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Elena Martín-Hernández

http://www.w3.org/2001/XMLSchema#string

María Elena Rodríguez-García

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María Teresa García-Silva

http://www.w3.org/2001/XMLSchema#string

Pilar Quijada-Fraile

http://www.w3.org/2001/XMLSchema#string

Pilar Tejada-Palacios

http://www.w3.org/2001/XMLSchema#string

Rogelio Simón de Las Heras

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P2860

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

Mutations in a P-type ATPase gene cause axonal degeneration

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

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

Mutation of aspartic acid-351, lysine-352, and lysine-515 alters the Ca2+ transport activity of the Ca2+-ATPase expressed in COS-1 cells.

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

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

Transport through recycling endosomes requires EHD1 recruitment by a phosphatidylserine translocase.

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

Localization, purification, and functional reconstitution of the P4-ATPase Atp8a2, a phosphatidylserine flippase in photoreceptor disc membranes.

P2888

s10048-016-0496-y

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259-263

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scholarly article

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10.1007/S10048-016-0496-Y

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P478

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Miguel Angel Martín

Joaquín Arenas

Francisco Martínez-Azorín

Antoni Matilla

Marc Corral-Juan

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2016-09-28T00:00:00Z

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27679995

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P921

disability

Huntington disease

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

about

P2860

P2860

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

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