Mitochondrial disease and endocrine dysfunction

Rare Causes of Primary Adrenal Insufficiency: Genetic and Clinical Characterization of a Large Nationwide Cohort

(2016) Tulay Guran et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

B35 Glutamine synthetase-1 induces autophagy and neuronal survival in a drosophila model huntington’s disease

(2016) Maria Enrica Pasini et al.   JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY

A Comprehensive Genomic Analysis Reveals the Genetic Landscape of Mitochondrial Respiratory Chain Complex Deficiencies

(2016) Masakazu Kohda et al.   PLoS Genetics

Long-term cardiac prognosis and risk stratification in 260 adults presenting with mitochondrial diseases

(2015) Karim Wahbi et al.   EUROPEAN HEART JOURNAL

Mutation in mitochondrial ribosomal protein S7 (MRPS7) causes congenital sensorineural deafness, progressive hepatic and renal failure and lactic acidemia

(2015) Minal J. Menezes et al.   HUMAN MOLECULAR GENETICS

Adrenal Insufficiency in Mitochondrial Disease

(2015) Laurel Calderwood et al.   JOURNAL OF CHILD NEUROLOGY

Growth hormone deficiency in a patient with mitochondrial disease

(2015) Vera Rocha et al.   JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM

Exome analysis identified a novel missense mutation in the CLPP gene in a consanguineous Saudi family expanding the clinical spectrum of Perrault Syndrome type-3

(2015) Saleem Ahmed et al.   JOURNAL OF THE NEUROLOGICAL SCIENCES

MitoCarta2.0: an updated inventory of mammalian mitochondrial proteins

(2015) Sarah E. Calvo et al.   NUCLEIC ACIDS RESEARCH

Increased Incidence of Mitochondrial Cytochrome C Oxidase 1 Gene Mutations in Patients with Primary Ovarian Insufficiency

(2015) Xiumei Zhen et al.   PLoS One

Adrenal insufficiency in a child with MELAS syndrome

(2014) Bushra Afroze et al.   BRAIN & DEVELOPMENT

Diabetes in Pediatric Patients with Kearns-Sayre Syndrome: Clinical Presentation of 2 Cases and a Review of Pathophysiology

(2014) Josephine Ho et al.   Canadian Journal of Diabetes

Multisystem Disorder in Late-Onset Chronic Progressive External Ophthalmoplegia

(2014) Gerald Pfeffer et al.   CANADIAN JOURNAL OF NEUROLOGICAL SCIENCES

A novel finding in MNGIE (Mitochondrial Neurogastrointestinal Encephalomyopathy): hypergonadotropic hypogonadism

(2014) İsmail Hakki Kalkan et al.   Hormones-International Journal of Endocrinology and Metabolism

Thioredoxin Reductase 2 (TXNRD2) Mutation Associated With Familial Glucocorticoid Deficiency (FGD)

(2014) Rathi Prasad et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

Oxidative stress and adrenocortical insufficiency

(2014) R Prasad et al.   JOURNAL OF ENDOCRINOLOGY

Paediatric single mitochondrial DNA deletion disorders: an overlapping spectrum of disease

(2014) Alexander Broomfield et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Glucose metabolism derangements in adults with the MELAS m.3243A>G mutation

(2014) Ayman W. El-Hattab et al.   MITOCHONDRION

Mutations in Twinkle primase-helicase cause Perrault syndrome with neurologic features

(2014) H. Morino et al.   NEUROLOGY

Novel (ovario) leukodystrophy related to AARS2 mutations

(2014) C. Dallabona et al.   NEUROLOGY

Oxidative Stress and Mitochondrial Dysfunction across Broad-Ranging Pathologies: Toward Mitochondria-Targeted Clinical Strategies

(2014) Giovanni Pagano et al.   Oxidative Medicine and Cellular Longevity

The spectrum of clinical presentation, diagnosis, and management of mitochondrial forms of diabetes

(2014) Amel Karaa et al.   PEDIATRIC DIABETES

Mutations inPTRH2cause novel infantile-onset multisystem disease with intellectual disability, microcephaly, progressive ataxia, and muscle weakness

(2014) Hao Hu et al.   Annals of Clinical and Translational Neurology

Perrault Syndrome Is Caused by Recessive Mutations in CLPP, Encoding a Mitochondrial ATP-Dependent Chambered Protease

(2013) Emma M. Jenkinson et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Mutations in LARS2, Encoding Mitochondrial Leucyl-tRNA Synthetase, Lead to Premature Ovarian Failure and Hearing Loss in Perrault Syndrome

(2013) Sarah B. Pierce et al.   AMERICAN JOURNAL OF HUMAN GENETICS

A novel mitochondrial DNA deletion in a patient with Kearns-Sayre syndrome: a late-onset of the fatal cardiac conduction deficit and cardiomyopathy accompanying long-term rGH treatment

(2013) Monika Obara-Moszynska et al.   BMC Pediatrics

Thyroid disease awareness is associated with high rates of identifying subjects with previously undiagnosed thyroid dysfunction

(2013) Gay J Canaris et al.   BMC PUBLIC HEALTH

Mitochondrial DNA polymerase gamma gene polymorphism is not associated with male infertility

(2013) J. Poongothai   JOURNAL OF ASSISTED REPRODUCTION AND GENETICS

The UK MRC Mitochondrial Disease Patient Cohort Study: clinical phenotypes associated with the m.3243A>G mutation--implications for diagnosis and management

(2013) V. Nesbitt et al.   JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY

Mitochondrial function and insulin secretion

(2013) Pierre Maechler   MOLECULAR AND CELLULAR ENDOCRINOLOGY

Endocrine disorders in mitochondrial disease

(2013) Andrew M. Schaefer et al.   MOLECULAR AND CELLULAR ENDOCRINOLOGY

Steroid hormone synthesis in mitochondria

(2013) Walter L. Miller   MOLECULAR AND CELLULAR ENDOCRINOLOGY

Phenotypic spectrum of eleven patients and five novel MTFMT mutations identified by exome sequencing and candidate gene screening

(2013) Tobias B. Haack et al.   MOLECULAR GENETICS AND METABOLISM

Phenotypic heterogeneity of the 8344A>G mtDNA "MERRF" mutation

(2013) M. Mancuso et al.   NEUROLOGY

SURF1 deficiency: a multi-centre natural history study

(2013) Yehani Wedatilake et al.   Orphanet Journal of Rare Diseases

NDUFA4 Mutations Underlie Dysfunction of a Cytochrome c Oxidase Subunit Linked to Human Neurological Disease

(2013) Robert D.S. Pitceathly et al.   Cell Reports

MPV17 Mutations Causing Adult-Onset Multisystemic Disorder With Multiple Mitochondrial DNA Deletions

(2012) Caterina Garone et al.   ARCHIVES OF NEUROLOGY

Role of mitochondria in steroidogenesis

(2012) Vassilios Papadopoulos et al.   BEST PRACTICE & RESEARCH CLINICAL ENDOCRINOLOGY & METABOLISM

A rare case report of simultaneous presentation of myopathy, Addison's disease, primary hypoparathyroidism, and Fanconi syndrome in a child diagnosed with Kearns–Sayre syndrome

(2012) Meropi Tzoufi et al.   EUROPEAN JOURNAL OF PEDIATRICS

The aging oocyte—can mitochondrial function be improved?

(2012) Yaakov Bentov et al.   FERTILITY AND STERILITY

Universal heteroplasmy of human mitochondrial DNA

(2012) B. A. I. Payne et al.   HUMAN MOLECULAR GENETICS

POLG mutations and age at menopause

(2012) A. J. Duncan et al.   HUMAN REPRODUCTION

Pearson syndrome: Unique endocrine manifestations including Neonatal Diabetes and adrenal insufficiency

(2012) T.B. Williams et al.   MOLECULAR GENETICS AND METABOLISM

Mutations in NNT encoding nicotinamide nucleotide transhydrogenase cause familial glucocorticoid deficiency

(2012) Eirini Meimaridou et al.   NATURE GENETICS

MELAS: A nationwide prospective cohort study of 96 patients in Japan

(2011) Shuichi Yatsuga et al.   BIOCHIMICA ET BIOPHYSICA ACTA-GENERAL SUBJECTS

Mitochondrial diabetes is associated with insulin resistance in subcutaneous adipose tissue but not with increased liver fat content

(2011) Markus M. Lindroos et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Early steps in steroidogenesis: intracellular cholesterol trafficking

(2011) Walter L. Miller et al.   JOURNAL OF LIPID RESEARCH

LRPPRC mutations cause a phenotypically distinct form of Leigh syndrome with cytochrome c oxidase deficiency

(2011) F.-G. Debray et al.   JOURNAL OF MEDICAL GENETICS

Biochemical analysis of the G517V POLG variant reveals wild-type like activity

(2011) Rajesh Kasiviswanathan et al.   MITOCHONDRION

Renal involvement in mitochondrial cytopathies

(2011) Francesco Emma et al.   PEDIATRIC NEPHROLOGY

Mutations in mitochondrial histidyl tRNA synthetase HARS2 cause ovarian dysgenesis and sensorineural hearing loss of Perrault syndrome

(2011) S. B. Pierce et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Specific metabolic rates of major organs and tissues across adulthood: evaluation by mechanistic model of resting energy expenditure

(2010) ZiMian Wang et al.   AMERICAN JOURNAL OF CLINICAL NUTRITION

Five mutations of mitochondrial DNA polymerase-gamma (POLG) are not a prevalent etiology for spontaneous 46,XX primary ovarian insufficiency

(2010) Zhi-Bin Tong et al.   FERTILITY AND STERILITY

Recessive twinkle mutations cause severe epileptic encephalopathy

(2009) T. Lonnqvist et al.   BRAIN

Abnormal hepatic energy homeostasis in type 2 diabetes

(2009) Julia Szendroedi et al.   HEPATOLOGY

Rare Autosomal Dominant POLG1 Mutation in a Family With Metabolic Strokes, Posterior Column Spinal Degeneration, and Multi-Endocrine Disease

(2009) Sarah E. Hopkins et al.   JOURNAL OF CHILD NEUROLOGY

The unfolding clinical spectrum of POLG mutations

(2009) M J Blok et al.   JOURNAL OF MEDICAL GENETICS

Abnormal growth in mitochondrial disease

(2008) S Wolny et al.   ACTA PAEDIATRICA

Mutation of C20orf7 Disrupts Complex I Assembly and Causes Lethal Neonatal Mitochondrial Disease

(2008) Canny Sugiana et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Clinical features, diagnosis and management of maternally inherited diabetes and deafness (MIDD) associated with the 3243A>G mitochondrial point mutation

(2008) R. Murphy et al.   DIABETIC MEDICINE

A functionally dominant mitochondrial DNA mutation

(2008) S. Sacconi et al.   HUMAN MOLECULAR GENETICS

Variable outcome of growth hormone administration in respiratory chain deficiency

(2008) S. Romano et al.   MOLECULAR GENETICS AND METABOLISM