4.7 Article

Bi-allelic loss-of-function OBSCN variants predispose individuals to severe recurrent rhabdomyolysis

Related references

Note: Only part of the references are listed.
Review Urology & Nephrology

From quail to earthquakes and human conflict: a historical perspective of rhabdomyclysis

Mirna Aleckovic-Halilovic et al.

Summary: Rhabdomyolysis is a common cause of acute kidney injury, often seen in elderly and frail patients but also caused by a variety of other factors. Its history dates back to antiquity, with links to poisoning and armed conflict in the 20th century.

CLINICAL KIDNEY JOURNAL (2021)

Article Clinical Neurology

The etiology of rhabdomyolysis: an interaction between genetic susceptibility and external triggers

N. Kruijt et al.

Summary: The study comprehensively described external triggers and potentially pathogenic genetic variants implicated in increased rhabdomyolysis susceptibility. Asphyxia was reported as the most frequent trigger, genetic defects were identified in a subset of patients, and the spectrum of genetic susceptibility for rhabdomyolysis has not been fully clarified.

EUROPEAN JOURNAL OF NEUROLOGY (2021)

Article Medicine, General & Internal

Exploring Obscurin and SPEG Kinase Biology

Jennifer R. Fleming et al.

Summary: The obscurin protein family members obscurin and SPEG, containing tandem kinase domains with signaling functions in cardiac and striated muscles, have specific roles in muscle biology. The study found multiple phosphorylation sites in obscurin's linker but not in SPEG, and suggested potential substrates for kinase domain 1 in obscurin and SPEG based on newly proposed phosphorylation sites. Kinase domain 1 in obscurin may play a role in autophosphorylation and have important catalytic functions.

JOURNAL OF CLINICAL MEDICINE (2021)

Article Genetics & Heredity

MYH1 is a candidate gene for recurrent rhabdomyolysis in humans

Hessa S. Alsaif et al.

Summary: Rhabdomyolysis is a serious medical condition with genetic causes including a novel missense variant in MYH1 identified in a patient with recurrent rhabdomyolysis. Further research is needed to investigate the role of MYH1 in cases of recurrent rhabdomyolysis.

AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2021)

Article Clinical Neurology

Congenital asymmetric distal myopathy with hemifacial weakness caused by a heterozygous large de novo mosaic deletion in nebulin

Lydia Sagath et al.

Summary: This study reports the first mosaic mutation in the nebulin gene identified in a Finnish patient, causing a predominantly distal congenital myopathy and asymmetric muscle weakness. The mutation was detected through copy number variation analysis and confirmed with a targeted comparative genomic hybridisation array. The truncated allele was found to be less than half the size of the full-length nebulin.

NEUROMUSCULAR DISORDERS (2021)

Article Clinical Neurology

MLIP causes recessive myopathy with rhabdomyolysis, myalgia and baseline elevated serum creatine kinase

Osorio Lopes Abath Neto et al.

Summary: This study identified seven individuals from six families with biallelic variants in the MLIP gene, shedding light on the genetic landscape of rhabdomyolysis. The findings solidify MLIP's role in maintaining normal and diseased skeletal muscle homeostasis.

BRAIN (2021)

Article Biochemistry & Molecular Biology

When is an obscurin variant pathogenic? The impact of Arg4344Gln and Arg4444Trp variants on protein-protein interactions and protein stability

Atsushi Fukuzawa et al.

Summary: This study investigated the effects of obscurin variants on its binding with other proteins, finding that the R4344Q and R4444W variants had no impact on titin binding but slightly increased affinity for PLN. The interaction between novex-3 and obscurin was not reproducible in mammalian cells, suggesting it may be an in vitro artifact. Overall, the experimental results did not clearly demonstrate the pathogenicity of these variants.

HUMAN MOLECULAR GENETICS (2021)

Review Clinical Neurology

A systematic review on the definition of rhabdomyolysis

Kristina Stahl et al.

JOURNAL OF NEUROLOGY (2020)

Article Genetics & Heredity

Investigating the genetic susceptibility to exertional heat illness

Lois Gardner et al.

JOURNAL OF MEDICAL GENETICS (2020)

Article Clinical Neurology

Targeted gene panel use in 2249 neuromuscular patients: the Australasian referral center experience

Sarah J. Beecroft et al.

ANNALS OF CLINICAL AND TRANSLATIONAL NEUROLOGY (2020)

Article Biochemistry & Molecular Biology

A long-read RNA-seq approach to identify novel transcripts of very large genes

Prech Uapinyoying et al.

GENOME RESEARCH (2020)

Review Physiology

Unraveling obscurins in heart disease

Alyssa Grogan et al.

PFLUGERS ARCHIV-EUROPEAN JOURNAL OF PHYSIOLOGY (2019)

Article Clinical Neurology

Recessive PYROXD1 mutations cause adult-onset limb-girdle-type muscular dystrophy

Markus T. Sainio et al.

JOURNAL OF NEUROLOGY (2019)

Article Cardiac & Cardiovascular Systems

Evaluating the Clinical Validity of Hypertrophic Cardiomyopathy Genes

Jodie Ingles et al.

CIRCULATION-GENOMIC AND PRECISION MEDICINE (2019)

Article Genetics & Heredity

Next-generation sequencing approach to hyperCKemia A 2-year cohort study

Anna Rubegni et al.

NEUROLOGY-GENETICS (2019)

Article Clinical Neurology

Rhabdomyolysis and fluctuating asymptomatic hyperCKemia associated with CACNA1S variant

C. Anandan et al.

EUROPEAN JOURNAL OF NEUROLOGY (2018)

Article Clinical Neurology

Congenital Titinopathy: Comprehensive characterization and pathogenic insights

Emily C. Oates et al.

ANNALS OF NEUROLOGY (2018)

Article Clinical Neurology

Next-Generation Sequencing to Diagnose Muscular Dystrophy, Rhabdomyolysis, and HyperCKemia

Lily Wu et al.

CANADIAN JOURNAL OF NEUROLOGICAL SCIENCES (2018)

Article Cell Biology

The complexity of titin splicing pattern in human adult skeletal muscles

Marco Savarese et al.

SKELETAL MUSCLE (2018)

Article Veterinary Sciences

An E321G MYH1 mutation is strongly associated with nonexertional rhabdomyolysis in Quarter Horses

Stephanie J. Valberg et al.

JOURNAL OF VETERINARY INTERNAL MEDICINE (2018)

Article Clinical Neurology

Phenotype and genotype of muscle ryanodine receptor rhabdomyolysis-myalgia syndrome

N. Witting et al.

ACTA NEUROLOGICA SCANDINAVICA (2018)

Editorial Material Clinical Neurology

EARLY-ONSET LIMB-GIRDLE MUSCULAR DYSTROPHY-2L IN A FEMALE ATHLETE

Patrick R. Blackburn et al.

MUSCLE & NERVE (2017)

Article Cell Biology

Exercise-induced alterations and loss of sarcomeric M-line organization in the diaphragm muscle of obscurin knockout mice

D. Randazzo et al.

AMERICAN JOURNAL OF PHYSIOLOGY-CELL PHYSIOLOGY (2017)

Article Clinical Neurology

217th ENMC International Workshop: RYR1-related myopathies, Naarden, The Netherlands, 29-31 January 2016

Heinz Jungbluth et al.

NEUROMUSCULAR DISORDERS (2016)

Article Clinical Neurology

Targeted next-generation sequencing assay for detection of mutations in primary myopathies

Anni Evila et al.

NEUROMUSCULAR DISORDERS (2016)

Article Cell Biology

Deletion of small ankyrin 1 (sAnk1) isoforms results in structural and functional alterations in aging skeletal muscle fibers

E. Giacomello et al.

AMERICAN JOURNAL OF PHYSIOLOGY-CELL PHYSIOLOGY (2015)

Article Clinical Neurology

Alpha-sarcoglycanopathy presenting as exercise intolerance and rhabdomyolysis in two adults

M. Tarnopolsky et al.

NEUROMUSCULAR DISORDERS (2015)

Review Genetics & Heredity

Rhabdomyolysis: a genetic perspective

Renata Siciliani Scalco et al.

ORPHANET JOURNAL OF RARE DISEASES (2015)

Article Multidisciplinary Sciences

OBSCN Mutations Associated with Dilated Cardiomyopathy and Haploinsufficiency

Steven Marston et al.

PLOS ONE (2015)

Article Biochemistry & Molecular Biology

Combination of lipid metabolism alterations and their sensitivity to inflammatory cytokines in human lipin-1-deficient myoblasts

Caroline Michot et al.

BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE (2013)

Review Biochemistry & Molecular Biology

ER stress-induced cell death mechanisms

Renata Sano et al.

BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR CELL RESEARCH (2013)

Article Cell Biology

Obscurin is required for ankyrinB-dependent dystrophin localization and sarcolemma integrity

Davide Randazzo et al.

JOURNAL OF CELL BIOLOGY (2013)

Article Endocrinology & Metabolism

Study of LPIN1, LPIN2 and LPIN3 in rhabdomyolysis and exercise-induced myalgia

Caroline Michot et al.

JOURNAL OF INHERITED METABOLIC DISEASE (2012)

Article Pediatrics

Fatal Rhabdomyolysis in 2 Children with LPIN1 Mutations

Jean Bergounioux et al.

JOURNAL OF PEDIATRICS (2012)

Editorial Material Clinical Neurology

MYOGLOBINURIA AND MUSCLE PAIN ARE COMMON IN PATIENTS WITH LIMB-GIRDLE MUSCULAR DYSTROPHY 21

K. D. Mathews et al.

NEUROLOGY (2011)

Article Critical Care Medicine

Rhabdomyolysis in the Intensive Care Unit

Mark L. Shapiro et al.

JOURNAL OF INTENSIVE CARE MEDICINE (2011)

Article Pediatrics

Metab-L: an electronic mailing list on inborn errors of metabolism

C Renner et al.

ACTA PAEDIATRICA (2010)

Article Clinical Neurology

New aspects on patients affected by dysferlin deficient muscular dystrophy

Lars Klinge et al.

JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY (2010)

Article Cell Biology

Obscurin determines the architecture of the longitudinal sarcoplasmic reticulum

Stephan Lange et al.

JOURNAL OF CELL SCIENCE (2009)

Review Physiology

Muscle Giants: Molecular Scaffolds in Sarcomerogenesis

Aikaterini Kontrogianni-Konstantopoulos et al.

PHYSIOLOGICAL REVIEWS (2009)

Article Biochemistry & Molecular Biology

Structural analysis of obscurin gene in hypertrophic cardiomyopathy

Takuro Arimura et al.

BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS (2007)

Article Anatomy & Morphology

Obscurin is required for the lateral alignment of striated myofibrils in zebrafish

Maide O. Raeker et al.

DEVELOPMENTAL DYNAMICS (2006)

Article Cell Biology

Complete human gene structure of obscurin: implications for isoform generation by differential splicing

Atsushi Fukuzawa et al.

JOURNAL OF MUSCLE RESEARCH AND CELL MOTILITY (2005)

Article Biochemistry & Molecular Biology

Three new isoforms of Caenorhabditis elegans UNC-89 containing MLCK-like protein kinase domains

TM Small et al.

JOURNAL OF MOLECULAR BIOLOGY (2004)

Article Cardiac & Cardiovascular Systems

Abnormal Ca2+ release, but normal ryanodine receptors, in canine and human heart failure

MT Jiang et al.

CIRCULATION RESEARCH (2002)