4.8 Article

A chemical chaperone improves muscle function in mice with a RyR1 mutation

相关参考文献

注意:仅列出部分参考文献,下载原文获取全部文献信息。
Review Clinical Neurology

Congenital myopathies: not only a paediatric topic

Heinz Jungbluth et al.

CURRENT OPINION IN NEUROLOGY (2016)

Review Neurosciences

Triadin regulation of the ryanodine receptor complex

Isabelle Marty

JOURNAL OF PHYSIOLOGY-LONDON (2015)

Review Biochemistry & Molecular Biology

New functions of mitochondria associated membranes in cellular signaling

Alexander R. van Vliet et al.

BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR CELL RESEARCH (2014)

Review Biochemistry & Molecular Biology

Calcium trafficking integrates endoplasmic reticulum function with mitochondrial bioenergetics

Randal J. Kaufman et al.

BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR CELL RESEARCH (2014)

Article Biochemistry & Molecular Biology

Ligands for FKBP12 Increase Ca2+ Influx and Protein Synthesis to Improve Skeletal Muscle Function

Chang Seok Lee et al.

JOURNAL OF BIOLOGICAL CHEMISTRY (2014)

Review Neurosciences

A molecular web: endoplasmic reticulum stress, inflammation, and oxidative stress

Namrata Chaudhari et al.

FRONTIERS IN CELLULAR NEUROSCIENCE (2014)

Review Biochemistry & Molecular Biology

Where the endoplasmic reticulum and the mitochondrion tie the knot: The mitochondria-associated membrane (MAM)

Arun Raturi et al.

BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR CELL RESEARCH (2013)

Review Biochemistry & Molecular Biology

ER stress-induced cell death mechanisms

Renata Sano et al.

BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR CELL RESEARCH (2013)

Review Physiology

Measuring Protein Synthesis With SUnSET: A Valid Alternative to Traditional Techniques?

Craig A. Goodman et al.

EXERCISE AND SPORT SCIENCES REVIEWS (2013)

Review Cell Biology

Signal integration by mTORC1 coordinates nutrient input with biosynthetic output

Christian C. Dibble et al.

NATURE CELL BIOLOGY (2013)

Article Cardiac & Cardiovascular Systems

Ablation of junctin or triadin is associated with increased cardiac injury following ischaemia/reperfusion

Wen-Feng Cai et al.

CARDIOVASCULAR RESEARCH (2012)

Article Biochemistry & Molecular Biology

AICAR prevents heat-induced sudden death in RyR1 mutant mice independent of AMPK activation

Johanna T. Lanner et al.

NATURE MEDICINE (2012)

Article Cell Biology

Differential impact of mitochondrial positioning on mitochondrial Ca2+ uptake and Ca2+ spark suppression in skeletal muscle

Ann E. Rossi et al.

AMERICAN JOURNAL OF PHYSIOLOGY-CELL PHYSIOLOGY (2011)

Article Genetics & Heredity

de novo RYR1 heterozygous mutation (I4898T) causing lethal core-rod myopathy in twins

Aurelio Hernandez-Lain et al.

EUROPEAN JOURNAL OF MEDICAL GENETICS (2011)

Article Biochemistry & Molecular Biology

Phenylbutyrate Up-regulates the DJ-1 Protein and Protects Neurons in Cell Culture and in Animal Models of Parkinson Disease

Wenbo Zhou et al.

JOURNAL OF BIOLOGICAL CHEMISTRY (2011)

Article Clinical Neurology

RYR1 Mutations Are a Common Cause of Congenital Myopathies with Central Nuclei

J. M. Wilmshurst et al.

ANNALS OF NEUROLOGY (2010)

Article Genetics & Heredity

Recessive Mutations in RYR1 Are a Common Cause of Congenital Fiber Type Disproportion

Nigel F. Clarke et al.

HUMAN MUTATION (2010)

Article Nutrition & Dietetics

Sarcoplasmic reticulum-mitochondrial through-space coupling in skeletal muscle

Robert T. Dirksen

APPLIED PHYSIOLOGY NUTRITION AND METABOLISM-PHYSIOLOGIE APPLIQUEE NUTRITION ET METABOLISME (2009)

Review Biochemistry & Molecular Biology

SR/ER-mitochondrial local communication: Calcium and ROS

Gyoergy Csordas et al.

BIOCHIMICA ET BIOPHYSICA ACTA-BIOENERGETICS (2009)

Article Biochemistry & Molecular Biology

Increased mitochondrial Ca2+ and decreased sarcoplasmic reticulum Ca2+ in mitochondrial myopathy

Jan Aydin et al.

HUMAN MOLECULAR GENETICS (2009)

Article Biochemistry & Molecular Biology

Junctin and triadin each activate skeletal ryanodine receptors but junctin alone mediates functional interactions with calsequestrin

Lan Wei et al.

INTERNATIONAL JOURNAL OF BIOCHEMISTRY & CELL BIOLOGY (2009)

Article Biochemical Research Methods

SUnSET, a nonradioactive method to monitor protein synthesis

Enrico K. Schmidt et al.

NATURE METHODS (2009)

Review Biochemistry & Molecular Biology

Calcium and apoptosis: ER-mitochondria Ca2+ transfer in the control of apoptosis

P. Pinton et al.

ONCOGENE (2008)

Article Multidisciplinary Sciences

An Ryr1I4895T mutation abolishes Ca2+ release channel function and delays development in homozygous offspring of a mutant mouse line

Elena Zvaritch et al.

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2007)

Article Multidisciplinary Sciences

Selective fluorescent imaging of superoxide in vivo using ethidium-based probes

Kristine M. Robinson et al.

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2006)

Review Multidisciplinary Sciences

The pathophysiology of mitochondrial cell death

DR Green et al.

SCIENCE (2004)

Review Cell Biology

Calcium, ATP, and ROS: a mitochondrial love-hate triangle

PS Brookes et al.

AMERICAN JOURNAL OF PHYSIOLOGY-CELL PHYSIOLOGY (2004)

Article Pharmacology & Pharmacy

Sodium 4-phenylbutyrate protects against cerebral ischemic injury

X Qi et al.

MOLECULAR PHARMACOLOGY (2004)

Article Biochemistry & Molecular Biology

Type 3 inositol 1,4,5-trisphosphate receptor modulates cell death

S Blackshaw et al.

FASEB JOURNAL (2000)