Delineating the role of alterations in lipid metabolism to the pathogenesis of inherited skeletal and cardiac muscle disorders

A Congenital Muscular Dystrophy with Mitochondrial Structural Abnormalities Caused by Defective De Novo Phosphatidylcholine Biosynthesis

(2011) Satomi Mitsuhashi et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Clinical and molecular characterization of a cohort of patients with novel nucleotide alterations of the Dystrophin gene detected by direct sequencing

(2011) Francesca Magri et al.   BMC Medical Genetics

A novel PNPLA2 mutation causes neutral lipid storage disease with myopathy (NLSDM) presenting muscular dystrophic features with lipid storage and rimmed vacuoles

(2011) J. Chen et al.   CLINICAL NEUROPATHOLOGY

Shedding light on the enigma of myocardial lipotoxicity: the involvement of known and putative regulators of fatty acid storage and mobilization

(2010) David N. Brindley et al.   AMERICAN JOURNAL OF PHYSIOLOGY-ENDOCRINOLOGY AND METABOLISM

Reduction in cholesterol synthesis in response to serum starvation in lymphoblasts of a patient with Barth syndromeThis paper is one of a selection of papers published in this special issue entitled “Second International Symposium on Recent Advances in Basic, Clinical, and Social Medicine” and has undergone the Journal's usual peer review process.

(2010) Kristin D. Hauff et al.   Biochemistry and Cell Biology

High frequency of ETFDH c.250G>A mutation in Taiwanese patients with late-onset lipid storage myopathy

(2010) M-Y Lan et al.   CLINICAL GENETICS

CUGBP1 overexpression in mouse skeletal muscle reproduces features of myotonic dystrophy type 1

(2010) Amanda J. Ward et al.   HUMAN MOLECULAR GENETICS

Cardiac and Skeletal Muscle Defects in a Mouse Model of Human Barth Syndrome

(2010) Devrim Acehan et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

LMNAMutations, Skeletal Muscle Lipid Metabolism, and Insulin Resistance

(2010) Michael Boschmann et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

CTG repeat lengths of the DMPK gene in myotonic dystrophy patients compared to healthy controls in Thailand

(2010) S. Theerasasawat et al.   JOURNAL OF CLINICAL NEUROSCIENCE

Genotype-phenotype correlations in a large series of patients with muscle type CPT II deficiency

(2010) Angelica Anichini et al.   NEUROLOGICAL RESEARCH

Neutral lipid storage disease with subclinical myopathy due to a retrotransposal insertion in the PNPLA2 gene

(2010) Hasan O. Akman et al.   NEUROMUSCULAR DISORDERS

Myocardial Fatty Acid Metabolism in Health and Disease

(2010) Gary D. Lopaschuk et al.   PHYSIOLOGICAL REVIEWS

Genetic Manipulation of Dysferlin Expression in Skeletal Muscle

(2009) Douglas P. Millay et al.   AMERICAN JOURNAL OF PATHOLOGY

Adipose triacylglycerol lipase deletion alters whole body energy metabolism and impairs exercise performance in mice

(2009) Elisabeth Huijsman et al.   AMERICAN JOURNAL OF PHYSIOLOGY-ENDOCRINOLOGY AND METABOLISM

Neutral lipid storage disease: genetic disorders caused by mutations in adipose triglyceride lipase/PNPLA2 or CGI-58/ABHD5

(2009) Martina Schweiger et al.   AMERICAN JOURNAL OF PHYSIOLOGY-ENDOCRINOLOGY AND METABOLISM

Biochemistry, physiology, and genetics of GPAT, AGPAT, and lipin enzymes in triglyceride synthesis

(2009) Kazuharu Takeuchi et al.   AMERICAN JOURNAL OF PHYSIOLOGY-ENDOCRINOLOGY AND METABOLISM

Cardiolipin and monolysocardiolipin analysis in fibroblasts, lymphocytes, and tissues using high-performance liquid chromatography–mass spectrometry as a diagnostic test for Barth syndrome

(2009) Riekelt H. Houtkooper et al.   ANALYTICAL BIOCHEMISTRY

Phospholipase A2-derived lysophosphatidylcholine triggers Ca2+ entry in dystrophic skeletal muscle fibers

(2009) François-Xavier Boittin et al.   BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS

Understanding the muscular dystrophy caused by deletion of choline kinase beta in mice

(2009) Gengshu Wu et al.   BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR AND CELL BIOLOGY OF LIPIDS

Role of fatty acid uptake and fatty acid β-oxidation in mediating insulin resistance in heart and skeletal muscle

(2009) Liyan Zhang et al.   BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR AND CELL BIOLOGY OF LIPIDS

Clinical utility of genetic tests for inherited hypertrophic and dilated cardiomyopathies

(2009) Maria Giovanna Colombo et al.   Cardiovascular Ultrasound

Cardiac Microvascular Pathology in Fabry Disease

(2009) Beth L. Thurberg et al.   CIRCULATION

Mutations of carnitine palmitoyltransferase II (CPT II) in Japanese patients with CPT II deficiency

(2009) T Yasuno et al.   CLINICAL GENETICS

Mitochondrial abnormalities, energy deficit and oxidative stress are features of calpain 3 deficiency in skeletal muscle

(2009) I. Kramerova et al.   HUMAN MOLECULAR GENETICS

Adipose Triglyceride Lipase Deficiency Causes Tissue-specific Changes in Insulin Signaling

(2009) Petra C. Kienesberger et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Identification of the Human Mitochondrial Linoleoyl-coenzyme A Monolysocardiolipin Acyltransferase (MLCL AT-1)

(2009) William A. Taylor et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

The R439C mutation inLMNAcauses lamin oligomerization and susceptibility to oxidative stress

(2009) Valerie L.R.M. Verstraeten et al.   JOURNAL OF CELLULAR AND MOLECULAR MEDICINE

Tragedy in a heartbeat: malfunctioning desmin causes skeletal and cardiac muscle disease

(2009) Lev G. Goldfarb et al.   JOURNAL OF CLINICAL INVESTIGATION

Mucolipidosis II and III alpha/beta: mutation analysis of 40 Japanese patients showed genotype–phenotype correlation

(2009) Takanobu Otomo et al.   JOURNAL OF HUMAN GENETICS

Fatty acids are rapidly delivered to and extracted from membranes by methyl- -cyclodextrin

(2009) K. Brunaldi et al.   JOURNAL OF LIPID RESEARCH

Novel role of FATP1 in mitochondrial fatty acid oxidation in skeletal muscle cells

(2009) David Sebastián et al.   JOURNAL OF LIPID RESEARCH

Fatty acid flux in adipocytes: The in's and out's of fat cell lipid trafficking

(2009) Brian R. Thompson et al.   MOLECULAR AND CELLULAR ENDOCRINOLOGY

MALDI reveals membrane lipid profile reversion in MDX mice

(2009) Farida Benabdellah et al.   NEUROBIOLOGY OF DISEASE

High resolution NMR based analysis of serum lipids in Duchenne muscular dystrophy patients and its possible diagnostic significance

(2009) Niraj Kumar Srivastava et al.   NMR IN BIOMEDICINE

Chanarin-Dorfman Syndrome: Clinical Features of a Rare Lipid Metabolism Disorder

(2009) Mukadder Ayse Selimoglu et al.   PEDIATRIC DERMATOLOGY

Mitochondrial Trifunctional Protein Deficiency With Recurrent Rhabdomyolysis

(2009) Oded Scheuerman et al.   PEDIATRIC NEUROLOGY

Role of calcium-independent phospholipase A2 in the pathogenesis of Barth syndrome

(2009) A. Malhotra et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Lipid imaging with cluster time-of-flight secondary ion mass spectrometry

(2008) Alain Brunelle et al.   ANALYTICAL AND BIOANALYTICAL CHEMISTRY

The Emerging Functions and Mechanisms of Mammalian Fatty Acid–Binding Proteins

(2008) Judith Storch et al.   Annual Review of Nutrition

Clinical and genetic characterization of Chanarin–Dorfman syndrome

(2008) Claudio Bruno et al.   BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS

Regulation and function of triacylglycerol lipases in cellular metabolism

(2008) Matthew J. Watt et al.   BIOCHEMICAL JOURNAL

Mitochondrial monolysocardiolipin acyltransferase is elevated in the surviving population of H9c2 cardiac myoblast cells exposed to 2-deoxyglucose-induced apoptosis

(2008) Maria Danos et al.   Biochemistry and Cell Biology

Glycerol-3-phosphate acyltransferases: Rate limiting enzymes of triacylglycerol biosynthesis

(2008) Angela A. Wendel et al.   BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR AND CELL BIOLOGY OF LIPIDS

Hypertrophic Cardiomyopathy

(2008) Radhakrishnan Ramaraj   Cardiology in Review

Subcellular remodelling may induce cardiac dysfunction in congestive heart failure

(2008) N. S. Dhalla et al.   CARDIOVASCULAR RESEARCH

Lipid imaging of human skeletal muscle using TOF-SIMS with bismuth cluster ion as a primary ion source

(2008) Ylva Magnusson et al.   CLINICAL PHYSIOLOGY AND FUNCTIONAL IMAGING

Severe rhabdomyolysis with hypoglycemia in an adult patient with carnitine palmitoyltransferase II deficiency

(2008) M. Deutsch et al.   European Journal of Internal Medicine

Insights into post-translational processing of β-galactosidase in an animal model resembling late infantile human GM1-gangliosidosis

(2008) R. Kreutzer et al.   JOURNAL OF CELLULAR AND MOLECULAR MEDICINE

Cardiolipin biosynthesis and remodeling enzymes are altered during development of heart failure

(2008) Harjot K. Saini-Chohan et al.   JOURNAL OF LIPID RESEARCH

Structural and functional analysis of fatty acid-binding proteins

(2008) Judith Storch et al.   JOURNAL OF LIPID RESEARCH

Mice expressing L345P mutant desmin exhibit morphological and functional changes of skeletal and cardiac mitochondria

(2008) Anna Kostareva et al.   JOURNAL OF MUSCLE RESEARCH AND CELL MOTILITY

Up-regulation of the peroxiredoxin-6 related metabolism of reactive oxygen species in skeletal muscle of mice lacking neuronal nitric oxide synthase

(2008) Luis Da Silva-Azevedo et al.   JOURNAL OF PHYSIOLOGY-LONDON

Caveolin-3 T78M and T78K missense mutations lead to different phenotypes in vivo and in vitro

(2008) Monica Traverso et al.   LABORATORY INVESTIGATION

Phenotype, diagnosis, and treatment of Gaucher's disease

(2008) Gregory A Grabowski   LANCET

Short-chain acyl-coenzyme A dehydrogenase deficiency

(2008) Reena Jethva et al.   MOLECULAR GENETICS AND METABOLISM

Expression of caveolar components in primary desminopathy

(2008) Akiyo Shinde et al.   NEUROMUSCULAR DISORDERS

Triglyceride Deposit Cardiomyovasculopathy

(2008) Ken-ichi Hirano et al.   NEW ENGLAND JOURNAL OF MEDICINE

Clinical features and new molecular findings in Carnitine Palmitoyltransferase II (CPT II) deficiency

(2007) S. Corti et al.   JOURNAL OF THE NEUROLOGICAL SCIENCES

Risk of sudden death and acute life-threatening events in patients with glutaric acidemia type II

(2007) Brad Angle et al.   MOLECULAR GENETICS AND METABOLISM