The mutation of Pro789 to Leu reduces the activity of the fast-twitch skeletal muscle sarco(endo)plasmic reticulum Ca2+ ATPase (SERCA1) and is associated with Brody disease
about
Identification, expression, function, and localization of a novel (sixth) isoform of the human sarco/endoplasmic reticulum Ca2+ATPase 3 geneA transcriptomic approach to search for novel phenotypic regulators in McArdle disease.A segmental genomic duplication generates a functional intron.Sarco(endo)plasmic reticulum calcium pumps: recent advances in our understanding of structure/function and biology (review).Exome analysis identifies Brody myopathy in a family diagnosed with malignant hyperthermia susceptibilityCalcium-ATPases: Gene disorders and dysregulation in cancer.A defective SERCA1 protein is responsible for congenital pseudomyotonia in Chianina cattle.Calcium pumps in health and disease.Selenoprotein W redox-regulated Ca2+ channels correlate with selenium deficiency-induced muscles Ca2+ leak.The Golgi Apparatus: Panel Point of Cytosolic Ca(2+) Regulation.McArdle disease: a unique study model in sports medicine.Pharmacogenetics and pathophysiology of CACNA1S mutations in malignant hyperthermia.Targeted Mutation of Nuclear Bone Morphogenetic Protein 2 Impairs Secondary Immune Response in a Mouse Model.A novel bone morphogenetic protein 2 mutant mouse, nBmp2NLS(tm), displays impaired intracellular Ca2+ handling in skeletal muscleInhibition of ubiquitin proteasome system rescues the defective sarco(endo)plasmic reticulum Ca2+-ATPase (SERCA1) protein causing Chianina cattle pseudomyotonia.Cyclopiazonic acid and thapsigargin reduce Ca2+ influx in frog skeletal muscle fibres as a result of Ca2+ store depletion.Targeted disruption of the ATP2A1 gene encoding the sarco(endo)plasmic reticulum Ca2+ ATPase isoform 1 (SERCA1) impairs diaphragm function and is lethal in neonatal mice.Self-assembling study of sarcolipin and its mutants in multiple molecular dynamic simulations.Molecular dynamics of water and monovalent-ions transportation mechanisms of pentameric sarcolipin.
P2860
Q28251173-0B37406D-C362-4D21-B440-48668C5A38CDQ34162933-40048824-9AE3-4830-B45D-36F6ABE5868DQ34212000-F00F42DC-2E0A-4734-A539-D8BD7039D7C6Q34219003-5EC3C428-1F0C-455A-8011-9D926B016008Q35000743-5953A3AA-2D3D-45ED-9975-47FBD7238415Q36854038-81172F96-97C8-40DC-97CE-727CB9A0DC27Q37071895-4D56F906-A4D0-40FD-BB50-30435962CA07Q37605483-324A7448-8855-4E3E-AB78-9E6C15C3AEC9Q37628909-A5941961-1338-430F-B771-ECC2B1B7531AQ38116698-85A1401F-366E-4638-9A9A-FB4E2CA3216EQ38229959-FCA03AE3-620A-4525-83C3-94F5B7754554Q39052152-55204F71-E43E-4181-8C4B-9FCB361E2186Q40941100-797C911D-19A0-4BC8-A3F2-C69E22351650Q42150954-41A85EBA-1A53-4695-B949-F42C4023BAB8Q43041172-FD80C66B-D515-4457-AE54-BCA0C384C42BQ43923091-EC46D517-96DD-4F15-B92A-10E35306B189Q44295699-B232431D-453F-4D06-BB68-371FD56BD320Q48046292-59EED4C6-1C4B-4448-8C96-8D5BA22585ECQ53455831-6A69EFAF-BA39-40C4-AFFE-14B83378E0BD
P2860
The mutation of Pro789 to Leu reduces the activity of the fast-twitch skeletal muscle sarco(endo)plasmic reticulum Ca2+ ATPase (SERCA1) and is associated with Brody disease
description
2000 nî lūn-bûn
@nan
2000 թուականի Մայիսին հրատարակուած գիտական յօդուած
@hyw
2000 թվականի մայիսին հրատարակված գիտական հոդված
@hy
2000年の論文
@ja
2000年論文
@yue
2000年論文
@zh-hant
2000年論文
@zh-hk
2000年論文
@zh-mo
2000年論文
@zh-tw
2000年论文
@wuu
name
The mutation of Pro789 to Leu ...... associated with Brody disease
@ast
The mutation of Pro789 to Leu ...... associated with Brody disease
@en
The mutation of Pro789 to Leu ...... associated with Brody disease
@en-gb
The mutation of Pro789 to Leu ...... associated with Brody disease
@nl
type
label
The mutation of Pro789 to Leu ...... associated with Brody disease
@ast
The mutation of Pro789 to Leu ...... associated with Brody disease
@en
The mutation of Pro789 to Leu ...... associated with Brody disease
@en-gb
The mutation of Pro789 to Leu ...... associated with Brody disease
@nl
prefLabel
The mutation of Pro789 to Leu ...... associated with Brody disease
@ast
The mutation of Pro789 to Leu ...... associated with Brody disease
@en
The mutation of Pro789 to Leu ...... associated with Brody disease
@en-gb
The mutation of Pro789 to Leu ...... associated with Brody disease
@nl
P2093
P356
P1433
P1476
The mutation of Pro789 to Leu ...... associated with Brody disease
@en
P2093
A Odermatt
D H MacLennan
V K Khanna
P2888
P304
P356
10.1007/S004390000297
P407
P577
2000-05-01T00:00:00Z
P6179
1005798843