Mitochondrial disease and endocrine dysfunction

[1]  S. Bhaskar,et al.  Expanding the genotypic spectrum of Perrault syndrome , 2017, Clinical genetics.

[2]  C. Gellera,et al.  B35 Glutamine synthetase-1 induces autophagy and neuronal survival in a drosophila model huntington’s disease , 2016 .

[3]  Y. Okazaki,et al.  A Comprehensive Genomic Analysis Reveals the Genetic Landscape of Mitochondrial Respiratory Chain Complex Deficiencies , 2016, PLoS genetics.

[4]  P. Laforêt,et al.  Long-term cardiac prognosis and risk stratification in 260 adults presenting with mitochondrial diseases. , 2015, European heart journal.

[5]  F. Baş,et al.  Rare Causes of Primary Adrenal Insufficiency: Genetic and Clinical Characterization of a Large Nationwide Cohort , 2015, The Journal of clinical endocrinology and metabolism.

[6]  Karl R. Clauser,et al.  MitoCarta2.0: an updated inventory of mammalian mitochondrial proteins , 2015, Nucleic Acids Res..

[7]  J. Marques,et al.  Growth hormone deficiency in a patient with mitochondrial disease , 2015, Journal of pediatric endocrinology & metabolism : JPEM.

[8]  J. Qiao,et al.  Increased Incidence of Mitochondrial Cytochrome C Oxidase 1 Gene Mutations in Patients with Primary Ovarian Insufficiency , 2015, PloS one.

[9]  J. Al-Aama,et al.  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, Journal of the Neurological Sciences.

[10]  A. Fattal-Valevski,et al.  Homozygous p.V116* mutation in C12orf65 results in Leigh syndrome , 2015, Journal of Neurology, Neurosurgery & Psychiatry.

[11]  A. Goldstein,et al.  The spectrum of clinical presentation, diagnosis, and management of mitochondrial forms of diabetes , 2015, Pediatric diabetes.

[12]  Joseph T. Glessner,et al.  Mutation in mitochondrial ribosomal protein S7 (MRPS7) causes congenital sensorineural deafness, progressive hepatic and renal failure and lactic acidemia. , 2015, Human molecular genetics.

[13]  T. Wienker,et al.  Mutations in PTRH2 cause novel infantile-onset multisystem disease with intellectual disability, microcephaly, progressive ataxia, and muscle weakness , 2014, Annals of clinical and translational neurology.

[14]  T. Walsh,et al.  Mutations in Twinkle primase-helicase cause Perrault syndrome with neurologic features , 2014, Neurology.

[15]  B. Afroze,et al.  Adrenal insufficiency in a child with MELAS syndrome , 2014, Brain and Development.

[16]  K. McKernan,et al.  Mutation in The Nuclear‐Encoded Mitochondrial Isoleucyl–tRNA Synthetase IARS2 in Patients with Cataracts, Growth Hormone Deficiency with Short Stature, Partial Sensorineural Deafness, and Peripheral Neuropathy or with Leigh Syndrome , 2014, Human mutation.

[17]  S. Rahman,et al.  Paediatric single mitochondrial DNA deletion disorders: an overlapping spectrum of disease , 2014, Journal of Inherited Metabolic Disease.

[18]  W. Craigen,et al.  Glucose metabolism derangements in adults with the MELAS m.3243A>G mutation. , 2014, Mitochondrion.

[19]  Aneal Khan,et al.  Diabetes in pediatric patients with Kearns-Sayre syndrome: clinical presentation of 2 cases and a review of pathophysiology. , 2014, Canadian journal of diabetes.

[20]  A. Vanderver,et al.  Novel (ovario) leukodystrophy related to AARS2 mutations , 2014, Neurology.

[21]  F. Pallardó,et al.  Oxidative Stress and Mitochondrial Dysfunction across Broad-Ranging Pathologies: Toward Mitochondria-Targeted Clinical Strategies , 2014, Oxidative medicine and cellular longevity.

[22]  L. Metherell,et al.  Oxidative stress and adrenocortical insufficiency , 2014, The Journal of endocrinology.

[23]  L. Metherell,et al.  Thioredoxin Reductase 2 (TXNRD2) Mutation Associated With Familial Glucocorticoid Deficiency (FGD) , 2014, The Journal of clinical endocrinology and metabolism.

[24]  T. Wieland,et al.  Phenotypic spectrum of eleven patients and five novel MTFMT mutations identified by exome sequencing and candidate gene screening. , 2014, Molecular genetics and metabolism.

[25]  Francesco Muntoni,et al.  COX10 mutations resulting in complex multisystem mitochondrial disease that remains stable into adulthood. , 2013, JAMA neurology.

[26]  Robert W. Taylor,et al.  Endocrine disorders in mitochondrial disease☆ , 2013, Molecular and Cellular Endocrinology.

[27]  W. Miller Steroid hormone synthesis in mitochondria , 2013, Molecular and Cellular Endocrinology.

[28]  P. Maechler Mitochondrial function and insulin secretion , 2013, Molecular and Cellular Endocrinology.

[29]  J. Poongothai Mitochondrial DNA polymerase gamma gene polymorphism is not associated with male infertility , 2013, Journal of Assisted Reproduction and Genetics.

[30]  Robert W. Taylor,et al.  SURF1 deficiency: a multi-centre natural history study , 2013, Orphanet Journal of Rare Diseases.

[31]  A. Berio,et al.  Multiple endocrinopathies (growth hormone deficiency, autoimmune hypothyroidism and diabetes mellitus) in Kearns-Sayre syndrome. , 2013, La Pediatria medica e chirurgica : Medical and surgical pediatrics.

[32]  M. Hurles,et al.  NDUFA4 Mutations Underlie Dysfunction of a Cytochrome c Oxidase Subunit Linked to Human Neurological Disease , 2013, Cell reports.

[33]  G. Comi,et al.  Phenotypic heterogeneity of the 8344A>G mtDNA “MERRF” mutation , 2013, Neurology.

[34]  F. Ashrafzadeh,et al.  Hypoparathyroidism as the First Manifestation of Kearns-Sayre Syndrome: A Case Report , 2013, Iranian journal of child neurology.

[35]  R. Wigton,et al.  Thyroid disease awareness is associated with high rates of identifying subjects with previously undiagnosed thyroid dysfunction , 2013, BMC Public Health.

[36]  T. Walsh,et al.  Mutations in LARS2, encoding mitochondrial leucyl-tRNA synthetase, lead to premature ovarian failure and hearing loss in Perrault syndrome. , 2013, American journal of human genetics.

[37]  Julian R. E. Davis,et al.  Perrault syndrome is caused by recessive mutations in CLPP, encoding a mitochondrial ATP-dependent chambered protease. , 2013, American journal of human genetics.

[38]  M. Argyropoulou,et al.  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 , 2013, European Journal of Pediatrics.

[39]  M. Krawczyński,et al.  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, BMC Pediatrics.

[40]  Robert W. Taylor,et al.  The UK MRC Mitochondrial Disease Patient Cohort Study: clinical phenotypes associated with the m.3243A>G mutation—implications for diagnosis and management , 2013, Journal of Neurology, Neurosurgery & Psychiatry.

[41]  V. Mootha,et al.  MPV17 Mutations Causing Adult-Onset Multisystemic Disorder With Multiple Mitochondrial DNA Deletions. , 2012, Archives of neurology.

[42]  V. Papadopoulos,et al.  Role of mitochondria in steroidogenesis. , 2012, Best practice & research. Clinical endocrinology & metabolism.

[43]  David C. Samuels,et al.  Universal heteroplasmy of human mitochondrial DNA , 2012, Human molecular genetics.

[44]  S. Cases,et al.  Intracellular Cholesterol Trafficking , 1998, Springer US.

[45]  Y. Beyazit,et al.  A novel finding in MNGIE (Mitochondrial Neurogastrointestinal Encephalomyopathy): hypergonadotropic hypogonadism , 2012, Hormones.

[46]  S. Rahman,et al.  POLG mutations and age at menopause. , 2012, Human reproduction.

[47]  J. Abdenur,et al.  Pearson syndrome: unique endocrine manifestations including neonatal diabetes and adrenal insufficiency. , 2012, Molecular genetics and metabolism.

[48]  T. Matsuishi,et al.  MELAS: a nationwide prospective cohort study of 96 patients in Japan. , 2012, Biochimica et biophysica acta.

[49]  W. Miller,et al.  Early steps in steroidogenesis: intracellular cholesterol trafficking , 2011, Journal of Lipid Research.

[50]  R. Kasiviswanathan,et al.  Biochemical analysis of the G517V POLG variant reveals wild-type like activity. , 2011, Mitochondrion.

[51]  E. Bertini,et al.  Renal involvement in mitochondrial cytopathies , 2011, Pediatric Nephrology.

[52]  T. Lehtimäki,et al.  Mitochondrial diabetes is associated with insulin resistance in subcutaneous adipose tissue but not with increased liver fat content , 2011, Journal of Inherited Metabolic Disease.

[53]  T. Walsh,et al.  Mutations in mitochondrial histidyl tRNA synthetase HARS2 cause ovarian dysgenesis and sensorineural hearing loss of Perrault syndrome , 2011, Proceedings of the National Academy of Sciences.

[54]  A. Janvier,et al.  LRPPRC mutations cause a phenotypically distinct form of Leigh syndrome with cytochrome c oxidase deficiency , 2011, Journal of Medical Genetics.

[55]  S. Sirrs,et al.  Multisystem Disorder in Late-Onset Chronic Progressive External Ophthalmoplegia , 2011, Canadian Journal of Neurological Sciences / Journal Canadien des Sciences Neurologiques.

[56]  Steven B Heymsfield,et al.  Specific metabolic rates of major organs and tissues across adulthood: evaluation by mechanistic model of resting energy expenditure. , 2010, The American journal of clinical nutrition.

[57]  L. Nelson,et al.  Five mutations of mitochondrial DNA polymerase-gamma (POLG) are not a prevalent etiology for spontaneous 46,XX primary ovarian insufficiency. , 2010, Fertility and sterility.

[58]  D. Gilbert,et al.  Rare Autosomal Dominant POLG1 Mutation in a Family With Metabolic Strokes, Posterior Column Spinal Degeneration, and Multi-Endocrine Disease , 2010, Journal of child neurology.

[59]  Ewald Moser,et al.  Abnormal hepatic energy homeostasis in type 2 diabetes , 2009, Hepatology.

[60]  K. Au,et al.  A novel mitochondrial DNA deletion in a Chinese girl with Kearns-Sayre syndrome. , 2009, Hong Kong medical journal = Xianggang yi xue za zhi.

[61]  H. Smeets,et al.  The unfolding clinical spectrum of POLG mutations , 2009, Journal of Medical Genetics.

[62]  A. Paetau,et al.  Recessive twinkle mutations cause severe epileptic encephalopathy. , 2009, Brain : a journal of neurology.

[63]  T. Cheetham,et al.  Abnormal growth in mitochondrial disease , 2009, Acta paediatrica.

[64]  V. Mootha,et al.  Mutation of C20orf7 disrupts complex I assembly and causes lethal neonatal mitochondrial disease. , 2008, American journal of human genetics.

[65]  S. Dimauro,et al.  A functionally dominant mitochondrial DNA mutation. , 2008, Human molecular genetics.

[66]  A. Hattersley,et al.  Clinical features, diagnosis and management of maternally inherited diabetes and deafness (MIDD) associated with the 3243A>G mitochondrial point mutation , 2008, Diabetic medicine : a journal of the British Diabetic Association.

[67]  A. Munnich,et al.  Variable outcome of growth hormone administration in respiratory chain deficiency. , 2008, Molecular genetics and metabolism.

[68]  M. Walker,et al.  Prevalence and progression of diabetes in mitochondrial disease , 2007, Diabetologia.

[69]  Douglas A Rahn,et al.  The Thiazolidinedione Pioglitazone Alters Mitochondrial Function in Human Neuron-Like Cells , 2007, Molecular Pharmacology.

[70]  E. Ruiz-Pesini,et al.  Cognitive dysfunction and hypogonadotrophic hypogonadism in a Brazilian patient with mitochondrial neurogastrointestinal encephalomyopathy and a novel ECGF1 mutation , 2007, European journal of neurology.

[71]  E. Husebye,et al.  Clinical evolution of Kearns‐Sayre syndrome with polyendocrinopathy and respiratory failure , 2007, Acta neurologica Scandinavica. Supplementum.

[72]  M. Roden,et al.  Mitochondrial function and endocrine diseases , 2007 .

[73]  A. Tessa,et al.  Mitochondrial DNA Deletion in a Child With Mitochondrial Encephalomyopathy, Growth Hormone Deficiency, and Hypoparathyroidism , 2006, Journal of child neurology.

[74]  Robert W. Taylor,et al.  Dominant inheritance of premature ovarian failure associated with mutant mitochondrial DNA polymerase gamma. , 2006, Human reproduction.

[75]  E. Reiling,et al.  Mitochondrial diabetes and its lessons for common Type 2 diabetes. , 2006, Biochemical Society transactions.

[76]  K. McElreavey,et al.  Is the CAG repeat of mitochondrial DNA polymerase gamma (POLG) associated with male infertility? A multi-centre French study. , 2005, Human reproduction.

[77]  L. Peltonen,et al.  Parkinsonism, premature menopause, and mitochondrial DNA polymerase γ mutations: clinical and molecular genetic study , 2004, The Lancet.

[78]  A. Berardinelli,et al.  Long-Term Growth Hormone Therapy in Mitochondrial Cytopathy , 2004, Hormone Research in Paediatrics.

[79]  D. Thorburn,et al.  Mitochondrial disorders: Prevalence, myths and advances , 2004, Journal of Inherited Metabolic Disease.

[80]  H. Gin,et al.  Heterogeneity of diabetes phenotype in patients with 3243 bp mutation of mitochondrial DNA (Maternally Inherited Diabetes and Deafness or MIDD). , 2004, Diabetes & metabolism.

[81]  M. Roden,et al.  Thiazolidinediones, like metformin, inhibit respiratory complex I: a common mechanism contributing to their antidiabetic actions? , 2004, Diabetes.

[82]  N. Bresolin,et al.  Late-onset cerebellar ataxia with hypogonadism and muscle coenzyme Q10 deficiency , 2004, Neurology.

[83]  G. Nijpels,et al.  Mitochondrial diabetes: molecular mechanisms and clinical presentation. , 2004, Diabetes.

[84]  Y. Momiyama,et al.  Cardiac autonomic nervous dysfunction in diabetic patients with a mitochondrial DNA mutation: assessment by heart rate variability. , 2002, Diabetes care.

[85]  K. Shishikura,et al.  Hypothalamic growth hormone deficiency and supplementary GH therapy in two patients with mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes. , 2002, Neuropediatrics.

[86]  K. Majamaa,et al.  Cardiac abnormalities in patients with mitochondrial DNA mutation 3243A>G , 2002, BMC cardiovascular disorders.

[87]  J. Jameson,et al.  Genetic causes of human reproductive disease. , 2002, The Journal of clinical endocrinology and metabolism.

[88]  Yoke‐Sun Lee,et al.  Mitochondrial tubulopathy: the many faces of mitochondrial disorders , 2001, Pediatric Nephrology.

[89]  K. Ohkubo,et al.  Mitochondrial gene mutations in the tRNA(Leu(UUR)) region and diabetes: prevalence and clinical phenotypes in Japan. , 2001, Clinical chemistry.

[90]  H. Gin,et al.  Maternally Inherited Diabetes and Deafness: A Multicenter Study , 2001, Annals of Internal Medicine.

[91]  M. Elisaf,et al.  Severe Hypomagnesemia and Hypoparathyroidism in Kearns-Sayre Syndrome , 2001, American Journal of Nephrology.

[92]  Y. Momiyama,et al.  Left ventricular hypertrophy and diastolic dysfunction in mitochondrial diabetes. , 2001, Diabetes care.

[93]  J. Maassen,et al.  HLA‐DQ polymorphism and degree of heteroplasmy of the A3243G mitochondrial DNA mutation in maternally inherited diabetes and deafness , 2000, Diabetic medicine : a journal of the British Diabetic Association.

[94]  P. Balestri,et al.  Endocrine Disorders in Two Sisters Affected by MELAS Syndrome , 2000, Journal of child neurology.

[95]  T. Matsunaka,et al.  Diabetes mellitus, deafness, muscle weakness and hypocalcemia in a patient with an A3243G mutation of the mitochondrial DNA. , 2000, Internal medicine.

[96]  J. Maassen,et al.  The Diabetes-associated 3243 Mutation in the Mitochondrial tRNALeu(UUR) Gene Causes Severe Mitochondrial Dysfunction without a Strong Decrease in Protein Synthesis Rate* , 1999, The Journal of Biological Chemistry.

[97]  R. Artuch,et al.  Multiple Endocrine Involvement in Two Pediatric Patients with Kearns-Sayre Syndrome , 1998, Hormone Research in Paediatrics.

[98]  R. Boles,et al.  Mitochondrial DNA deletion with Kearns Sayre syndrome in a child with Addison disease , 1998, European Journal of Pediatrics.

[99]  H. Topaloglu,et al.  Mitochondrial deletion in a boy with growth hormone deficiency mimicking cerebral palsy , 1998, Journal of Inherited Metabolic Disease.

[100]  T. Yanase,et al.  A case of mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes associated with diabetes mellitus and hypothalamo-pituitary dysfunction. , 1997, Endocrine journal.

[101]  M. Forest,et al.  Identification of a large-scale mitochondrial deoxyribonucleic acid deletion in endocrinopathies and deafness: report of two unrelated cases with diabetes mellitus and adrenal insufficiency, respectively. , 1997, The Journal of clinical endocrinology and metabolism.

[102]  F. Hanefeld,et al.  Hypoparathyroidism and Deafness Associated with Pleioplasmic Large Scale Rearrangements of the Mitochondrial DNA: A Clinical and Molecular Genetic Study of Four Children with Kearns-Sayre Syndrome , 1997, Pediatric Research.

[103]  I. Nonaka,et al.  Hypoparathyroidism and insulin‐dependent diabetes mellitus in a patient with Kearns–Sayre syndrome harbouring a mitochondrial DNA deletion , 1996, Clinical endocrinology.

[104]  T. Bourgeron,et al.  Clinical presentation of mitochondrial disorders in childhood , 1996, Journal of Inherited Metabolic Disease.

[105]  K. Furusho,et al.  Nephropathy and growth hormone deficiency in a patient with mitochondrial tRNA(Leu(UUR)) mutation. , 1996, Journal of medical genetics.

[106]  A. Franzese,et al.  Diabetes mellitus in Kearns-Sayre syndrome: a case with a 10-year follow-up. , 1995, Diabetes research and clinical practice.

[107]  M. Kasuga,et al.  Diabetes mellitus carrying a mutation in the mitochondrial tRNALeu(UUR) gene , 1995, Diabetologia.

[108]  S. Ohta,et al.  Content of mutant mitochondrial DNA and organ dysfunction in a patient with a MELAS subgroup of mitochondrial encephalomyopathies , 1993, Journal of the Neurological Sciences.

[109]  A. Rötig,et al.  Pearson syndrome: Altered tricarboxylic acid and urea-cycle metabolites, adrenal insufficiency and corneal opacities , 1993, Journal of Inherited Metabolic Disease.

[110]  Y. Wai,et al.  Hypothalamic amenorrhea in a case of mitochondrial encephalomyopathy. , 1992, Journal of the Formosan Medical Association = Taiwan yi zhi.

[111]  D. Barnett,et al.  Endocrine dysfunction in Kearns‐Sayre syndrome , 1992, Clinical endocrinology.

[112]  D. Klingmüller,et al.  Endocrine abnormalities in mitochondrial myopathy with external ophthalmoplegia , 1992, The clinical investigator.

[113]  M. Ōsawa,et al.  [Hypothalamic GH Deficiency and gelastic seizures in a 10-year-old girl with MELAS]. , 1991, No to hattatsu = Brain and development.

[114]  F. Ledeist,et al.  Pearson's marrow-pancreas syndrome. A multisystem mitochondrial disorder in infancy. , 1990, The Journal of clinical investigation.

[115]  S. Horai,et al.  Renal tubular involvement mimicking Bartter syndrome in a patient with Kearns-Sayre syndrome. , 1990, The Journal of pediatrics.

[116]  C. Duyckaerts,et al.  Kearns-sayre syndrome. Two clinico-pathological cases. , 1990, Neuropediatrics.

[117]  H. Sasaki,et al.  Myoclonus, cerebellar disorder, neuropathy, mitochondria1 myopathy, and ACTH deficiency , 1983, Neurology.

[118]  N. Cameron,et al.  GROWTH HORMONE DEFICIENCY IN MITOCHONDRIAL CYTOPATHY , 1982, Acta paediatrica Scandinavica.

[119]  U. Roessmann,et al.  Kearns‐Sayre Syndrome with hypoparathyroidism , 1978, Annals of neurology.

[120]  H. Szliwowski,et al.  Oculocraniosomatic neuromuscular disease with hypoparathyroidism. , 1977, American journal of diseases of children.

[121]  S. Dimauro,et al.  Lumping or splitting? “ophthalmoplegia‐plus” or kearns‐sayre syndrome? , 1977, Annals of neurology.

[122]  I. Nakano,et al.  [Familial progressive external opthalmoplegia, parkinsonism and polyneuropathy associated with POLG1 mutation]. , 2014, Rinsho shinkeigaku = Clinical neurology.

[123]  R. Casper,et al.  The aging oocyte--can mitochondrial function be improved? , 2013, Fertility and sterility.

[124]  秀一 八ツ賀 MELAS : a nationwide prospective cohort study of 96 patients in Japan , 2012 .

[125]  P. Harris,et al.  Large mitochondrial DNA deletion in an infant with addison disease. , 2012, JIMD reports.

[126]  R. Roine,et al.  A CLINICAL AND MOLECULAR GENETIC STUDY , 2010 .

[127]  P. Reynier,et al.  Mitochondrial DNA in the oocyte and the developing embryo. , 2007, Current topics in developmental biology.

[128]  M. Zeviani,et al.  The polymorphic polyglutamine repeat in the mitochondrial DNA polymerase γ gene is not associated with oligozoospermia , 2006, Journal of endocrinological investigation.

[129]  N. Matsuura,et al.  Pearson's marrow/pancreas syndrome: A histological and genetic study , 2005, Virchows Archiv A.

[130]  R. Gitzelmann,et al.  Pearson bone marrow-pancreas syndrome with insulin-dependent diabetes, progressive renal tubulopathy, organic aciduria and elevated fetal haemoglobin caused by deletion and duplication of mitochondrial DNA , 2005, European Journal of Pediatrics.

[131]  G. Nijpels,et al.  Molecular mechanisms and clinical presentation , 2004 .

[132]  A. Berio,et al.  [Kearns-Sayre syndrome with GH deficiency]. , 2000, La Pediatria medica e chirurgica : Medical and surgical pediatrics.

[133]  S. Shoji,et al.  Dysfunction of the hypothalamic-pituitary system in mitochondrial encephalomyopathies. , 1998, Journal of medicine.

[134]  C. Moraes,et al.  Mitochondrial encephalomyopathy and hypoparathyroidism associated with a duplication and a deletion of mitochondrial deoxyribonucleic acid. , 1998, The Journal of clinical endocrinology and metabolism.

[135]  C. C. Huang,et al.  Gonadal dysfunction in mitochondrial encephalomyopathies. , 1995, European neurology.

[136]  D. C. Henckel,et al.  Case report. , 1995, Journal.

[137]  Y. Tomoda,et al.  Human ovarian aging and mitochondrial DNA deletion. , 1993, Hormone research.

[138]  C. Friedman,et al.  Hypergonadotropic hypogonadism. , 1983, American journal of obstetrics and gynecology.