A novel mutation in isoform 3 of the plasma membrane Ca2+ pump impairs cellular Ca2+ homeostasis in a patient with cerebellar ataxia and laminin subunit 1α mutations

Journal of Biological Chemistry

Volumn 290, Issue 26, 2015, Pages 16132-16141

  Calì, Tito ^a   Lopreiato, Raffaele ^a   Shimony, Joshua ^b   Vineyard, Marisa ^c   Frizzarin, Martina ^a   Zanni, Ginevra ^d   Zanotti, Giuseppe ^a   Brini, Marisa ^a   Shinawi, Marwan ^c   Carafoli, Ernesto ^e  

^a UNIVERSITY OF PADOVA   (Italy)

^b WASHINGTON UNIVERSITY SCHOOL OF MEDICINE   (United States)

^c WASHINGTON UNIVERSITY SCHOOL OF MEDICINE   (United States)

^d BAMBINO GESÙ CHILDREN S HOSPITAL   (Italy)

^e VENETIAN INSTITUTE OF MOLECULAR MEDICINE   (Italy)

Author keywords

[No Author keywords available]

Indexed keywords

BRAIN; CELL MEMBRANES; CYTOLOGY; NEURONS;

BOUND STATE; CELL STIMULATION; CEREBELLAR ATAXIA; CYTOSOLIC; DEVELOPMENTAL DELAY; GENETIC DEFECTS; NOVEL MUTATIONS; STRUCTURAL EFFECT;

PUMPS;

LAMININ 1; LAMININ 1ALPHA; PLASMA MEMBRANE CALCIUM TRANSPORTING ADENOSINE TRIPHOSPHATASE; PLASMA MEMBRANE CALCIUM TRANSPORTING ADENOSINE TRIPHOSPHATASE 3; UNCLASSIFIED DRUG; ATP2B3 PROTEIN, HUMAN; CALCIUM; LAMININ; LAMININ A;

ARTICLE; ATP2B3 GENE; CALCIUM HOMEOSTASIS; CELL VIABILITY; CEREBELLAR ATAXIA; CONTROLLED STUDY; GENE; GENE MUTATION; GENETIC ANALYSIS; GENETIC CONSERVATION; GENETIC POLYMORPHISM; GENETIC VARIABILITY; HETEROZYGOSITY; HUMAN; HUMAN CELL; IMMUNOCYTOCHEMISTRY; MISSENSE MUTATION; NONHUMAN; PHENOTYPE; PRIORITY JOURNAL; PROTEIN EXPRESSION; SACCHAROMYCES CEREVISIAE; SEQUENCE ALIGNMENT; SEQUENCE HOMOLOGY; SITE DIRECTED MUTAGENESIS; WESTERN BLOTTING; ADULT; AMINO ACID SEQUENCE; CHEMISTRY; CHILD; FEMALE; GENETICS; HOMEOSTASIS; MALE; METABOLISM; MOLECULAR GENETICS; PEDIGREE;

ADULT; AMINO ACID SEQUENCE; CALCIUM; CEREBELLAR ATAXIA; CHILD; FEMALE; HOMEOSTASIS; HUMANS; LAMININ; MALE; MOLECULAR SEQUENCE DATA; MUTATION, MISSENSE; PEDIGREE; PLASMA MEMBRANE CALCIUM-TRANSPORTING ATPASES; SEQUENCE ALIGNMENT;

EID: 84941299737     PISSN: 00219258     EISSN: 1083351X     Source Type: Journal    
DOI: 10.1074/jbc.M115.656496     Document Type: Article

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