Mutations in the gene-encoding SERCA1, the fast-twitch skeletal muscle sarcoplasmic reticulum Ca2+ ATPase, are associated with Brody disease
about
Structure/function analysis of the Ca2+ binding and translocation domain of SERCA1 and the role in Brody disease of the ATP2A1 gene encoding SERCA1Inhibition of sarcoplasmic Ca2+-ATPase increases caffeine- and halothane-induced contractures in muscle bundles of malignant hyperthermia susceptible and healthy individuals.Calcium Dyshomeostasis in Tubular Aggregate MyopathyStructure of the human sarco/endoplasmic reticulum Ca2+-ATPase 3 gene. Promoter analysis and alternative splicing of the SERCA3 pre-mRNAA micropeptide encoded by a putative long noncoding RNA regulates muscle performanceGene knockout studies of Ca2+-transporting ATPasesPseudomyotonia in Romagnola cattle caused by novel ATP2A1 mutationsLoss of inositol 1,4,5-trisphosphate receptors from bile duct epithelia is a common event in cholestasis.Sites of regulatory interaction between calcium ATPases and phospholamban.Calcium signaling: a tale for all seasonsParallel mapping and simultaneous sequencing reveals deletions in BCAN and FAM83H associated with discrete inherited disorders in a domestic dog breedA transcriptomic approach to search for novel phenotypic regulators in McArdle disease.SERCaMP: a carboxy-terminal protein modification that enables monitoring of ER calcium homeostasisA segmental genomic duplication generates a functional intron.Sarco(endo)plasmic reticulum calcium pumps: recent advances in our understanding of structure/function and biology (review).Analysis of conditional paralytic mutants in Drosophila sarco-endoplasmic reticulum calcium ATPase reveals novel mechanisms for regulating membrane excitability.Plasma membrane Ca-ATPases in the nervous system during development and ageingExome analysis identifies Brody myopathy in a family diagnosed with malignant hyperthermia susceptibilityCo-expression of SERCA isoforms, phospholamban and sarcolipin in human skeletal muscle fibersEffects of PMCA and SERCA pump overexpression on the kinetics of cell Ca(2+) signalling.The molecular era of myology.Changing a limb muscle growth program into a resorption programThe sarcoplasmic reticulum in muscle fatigue and disease: role of the sarco(endo)plasmic reticulum Ca2+-ATPase.Absence of canonical Smad signaling in ureteral and bladder mesenchyme causes ureteropelvic junction obstruction.Molecular biology of channelopathies: impact on diagnosis and treatment.Calpain 3 deficiency affects SERCA expression and function in the skeletal muscle.Calcium-ATPases: Gene disorders and dysregulation in cancer.Complementary genomic screens identify SERCA as a therapeutic target in NOTCH1 mutated cancer.A defective SERCA1 protein is responsible for congenital pseudomyotonia in Chianina cattle.Implication of a rare deletion at distal 16p11.2 in schizophrenia.Calcium pumps in health and disease.Endoplasmic-reticulum calcium depletion and disease.The Ca2+ pumps of the endoplasmic reticulum and Golgi apparatus.Intracellular organelles in the saga of Ca2+ homeostasis: different molecules for different purposes?Positive muscle phenomena--diagnosis, pathogenesis and associated disorders.Zebrafish muscular disease models towards drug discovery.McArdle disease: a unique study model in sports medicine.The neonatal sarcoplasmic/endoplasmic reticulum calcium ATPase (SERCA1b): a neglected pump in scope.The regulation of sarco(endo)plasmic reticulum calcium-ATPases (SERCA).Autosomal dominant Brody disease cosegregates with a chromosomal (2;7)(p11.2;p12.1) translocation in an Italian family.
P2860
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P2860
Mutations in the gene-encoding SERCA1, the fast-twitch skeletal muscle sarcoplasmic reticulum Ca2+ ATPase, are associated with Brody disease
description
1996 nî lūn-bûn
@nan
1996 թուականի Հոկտեմբերին հրատարակուած գիտական յօդուած
@hyw
1996 թվականի հոտեմբերին հրատարակված գիտական հոդված
@hy
1996年の論文
@ja
1996年論文
@yue
1996年論文
@zh-hant
1996年論文
@zh-hk
1996年論文
@zh-mo
1996年論文
@zh-tw
1996年论文
@wuu
name
Mutations in the gene-encoding ...... associated with Brody disease
@ast
Mutations in the gene-encoding ...... associated with Brody disease
@en
Mutations in the gene-encoding ...... associated with Brody disease
@en-gb
Mutations in the gene-encoding ...... associated with Brody disease
@nl
type
label
Mutations in the gene-encoding ...... associated with Brody disease
@ast
Mutations in the gene-encoding ...... associated with Brody disease
@en
Mutations in the gene-encoding ...... associated with Brody disease
@en-gb
Mutations in the gene-encoding ...... associated with Brody disease
@nl
prefLabel
Mutations in the gene-encoding ...... associated with Brody disease
@ast
Mutations in the gene-encoding ...... associated with Brody disease
@en
Mutations in the gene-encoding ...... associated with Brody disease
@en-gb
Mutations in the gene-encoding ...... associated with Brody disease
@nl
P2093
P2860
P3181
P356
P1433
P1476
Mutations in the gene-encoding ...... associated with Brody disease
@en
P2093
Breuning MH
Jablecki CK
MacLennan DH
Odermatt A
P2860
P2888
P304
P3181
P356
10.1038/NG1096-191
P407
P577
1996-10-01T00:00:00Z
P6179
1032759532