Mutation of plasma membrane Ca2+ ATPase isoform 3 in a family with X-linked congenital cerebellar ataxia impairs Ca2+ homeostasis

Proceedings of the National Academy of Sciences of the United States of America

Volumn 109, Issue 36, 2012, Pages 14514-14519

  Zanni, Ginevra ^a   Calì, Tito ^a   Kalscheuer, Vera M ^c   Ottolini, Denis ^b   Barresi, Sabina ^a   Lebrun, Nicolas ^d   Montecchi Palazzi, Luisa ^e   Hu, Hao ^c   Chelly, Jamel ^d   Bertini, Enrico ^a   Brini, Marisa ^b   Carafoli, Ernesto ^f  

^a BAMBINO GESÙ CHILDREN S HOSPITAL   (Italy)

^b UNIVERSITY OF PADOVA   (Italy)

^c MAX PLANCK INSTITUTE FOR MOLECULAR GENETICS   (Germany)

^d INSTITUT COCHIN   (France)

^e WELLCOME TRUST SANGER INSTITUTE   (United Kingdom)

^f VENETIAN INSTITUTE OF MOLECULAR MEDICINE   (Italy)

Author keywords

Calcium dysregulation; Cerebellar atrophy; Isoforms; Plasma membrane calcium pumps; X linked ataxia

Indexed keywords

AEQUORIN; CALCIUM ION; INOSITOL TRISPHOSPHATE; PLASMA MEMBRANE CALCIUM TRANSPORTING ADENOSINE TRIPHOSPHATASE; PLASMA MEMBRANE CALCIUM TRANSPORTING ADENOSINE TRIPHOSPHATASE ISOFORM 3; UNCLASSIFIED DRUG;

ARTICLE; CALCIUM HOMEOSTASIS; CALCIUM TRANSPORT; CEREBELLAR ATAXIA; CONTROLLED STUDY; EXOME; FEMALE; GENETIC TRANSFECTION; HUMAN; HUMAN CELL; MAJOR CLINICAL STUDY; MISSENSE MUTATION; NERVE ENDING; PLASMID; PRIORITY JOURNAL; PURKINJE CELL;

AEQUORIN; AMINO ACID SEQUENCE; BASE SEQUENCE; BLOTTING, WESTERN; CALCIUM; CEREBELLAR ATAXIA; DNA PRIMERS; GENETIC DISEASES, X-LINKED; HELA CELLS; HOMEOSTASIS; HUMANS; MODELS, MOLECULAR; MOLECULAR SEQUENCE DATA; MUTAGENESIS, SITE-DIRECTED; MUTATION; NEURONS; PEDIGREE; PLASMA MEMBRANE CALCIUM-TRANSPORTING ATPASES; PROTEIN ISOFORMS; SEQUENCE ANALYSIS, DNA;

EID: 84866000337     PISSN: 00278424     EISSN: 10916490     Source Type: Journal    
DOI: 10.1073/pnas.1207488109     Document Type: Article

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