Calcium mishandling in absence of primary mitochondrial dysfunction drives cellular pathology in Wolfram Syndrome

[1]  Mitochondrial Disorder , 2021, Encyclopedia of Gerontology and Population Aging.

[2]  D. Manners,et al.  Stridor-related gray matter alterations in multiple system atrophy: A pilot study. , 2019, Parkinsonism & related disorders.

[3]  A. Zahradníková,et al.  Calcium Signaling and Contractility in Cardiac Myocyte of Wolframin Deficient Rats , 2019, Front. Physiol..

[4]  M. Borowiec,et al.  Optical coherence tomography and magnetic resonance imaging visual pathway evaluation in Wolfram syndrome , 2018, Developmental medicine and child neurology.

[5]  B. Delprat,et al.  ER-mitochondria cross-talk is regulated by the Ca2+ sensor NCS1 and is impaired in Wolfram syndrome , 2018, Science Signaling.

[6]  C. La Morgia,et al.  Deciphering OPA1 mutations pathogenicity by combined analysis of human, mouse and yeast cell models. , 2018, Biochimica et biophysica acta. Molecular basis of disease.

[7]  P. Pinton,et al.  The machineries, regulation and cellular functions of mitochondrial calcium , 2018, Nature Reviews Molecular Cell Biology.

[8]  P. Pinton,et al.  Calcium Dynamics as a Machine for Decoding Signals. , 2018, Trends in cell biology.

[9]  B. Delprat,et al.  Wolfram syndrome: MAMs’ connection? , 2018, Cell Death & Disease.

[10]  G. Plazzi,et al.  Cerebral Mitochondrial Microangiopathy Leads to Leukoencephalopathy in Mitochondrial Neurogastrointestinal Encephalopathy , 2018, American Journal of Neuroradiology.

[11]  L. Tychsen,et al.  Visual pathway function and structure in Wolfram syndrome: patient age, variation and progression , 2018, BMJ Open Ophthalmology.

[12]  D. Manners,et al.  Mitochondrial dysfunction in myotonic dystrophy type 1 , 2017, Neuromuscular Disorders.

[13]  A. Puca,et al.  A donor splice site mutation in CISD2 generates multiple truncated, non-functional isoforms in Wolfram syndrome type 2 patients , 2017, BMC Medical Genetics.

[14]  J. García-Feijóo,et al.  Normative database for separate inner retinal layers thickness using spectral domain optical coherence tomography in Caucasian population , 2017, PloS one.

[15]  P. Yu-Wai-Man,et al.  A novel CISD2 mutation associated with a classical Wolfram syndrome phenotype alters Ca2+ homeostasis and ER-mitochondria interactions , 2017, Human molecular genetics.

[16]  P. Pinton,et al.  Endoplasmic Reticulum-Mitochondria Communication Through Ca2+ Signaling: The Importance of Mitochondria-Associated Membranes (MAMs). , 2017, Advances in experimental medicine and biology.

[17]  G. Lenaers,et al.  WFS1 in Optic Neuropathies: Mutation Findings in Nonsyndromic Optic Atrophy and Assessment of Clinical Severity. , 2016, Ophthalmology.

[18]  V. Choubey,et al.  Role of Mitochondrial Dynamics in Neuronal Development: Mechanism for Wolfram Syndrome , 2016, PLoS biology.

[19]  L. Tychsen,et al.  Neuroimaging evidence of deficient axon myelination in Wolfram syndrome , 2016, Scientific Reports.

[20]  A. P. Arruda,et al.  Calcium Homeostasis and Organelle Function in the Pathogenesis of Obesity and Diabetes. , 2015, Cell metabolism.

[21]  R. Schüle,et al.  Mutations in the UGO1-like protein SLC25A46 cause an optic atrophy spectrum disorder , 2015, Nature Genetics.

[22]  M. Zeviani,et al.  Syndromic parkinsonism and dementia associated with OPA 1 missense mutations , 2015, Annals of neurology.

[23]  V. Calcaterra,et al.  Wolfram syndrome 2: a novel CISD2 mutation identified in Italian siblings , 2015, Acta Diabetologica.

[24]  R. Gocmen,et al.  Teaching NeuroImages: MRI of brain findings of Wolfram (DIDMOAD) syndrome , 2014, Neurology.

[25]  F. Urano,et al.  A calcium-dependent protease as a potential therapeutic target for Wolfram syndrome , 2014, Proceedings of the National Academy of Sciences.

[26]  L. Tychsen,et al.  Ophthalmologic correlates of disease severity in children and adolescents with Wolfram syndrome. , 2014, Journal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and Strabismus.

[27]  G. d’Annunzio,et al.  A novel CISD2 intragenic deletion, optic neuropathy and platelet aggregation defect in Wolfram syndrome type 2 , 2014, BMC Medical Genetics.

[28]  M. Adeva-Andany,et al.  Comprehensive review on lactate metabolism in human health. , 2014, Mitochondrion.

[29]  F. Urano,et al.  Calcium efflux from the endoplasmic reticulum leads to β-cell death. , 2014, Endocrinology.

[30]  N. Miller,et al.  Optic nerve histopathology in a case of Wolfram Syndrome: a mitochondrial pattern of axonal loss. , 2013, Mitochondrion.

[31]  P. Pinton,et al.  Subcellular calcium measurements in mammalian cells using jellyfish photoprotein aequorin-based probes , 2013, Nature Protocols.

[32]  Ajit S. Divakaruni,et al.  Wolfram Syndrome protein, Miner1, regulates sulphydryl redox status, the unfolded protein response, and Ca2+ homeostasis , 2013, EMBO molecular medicine.

[33]  Carthene R. Bazemore-Walker,et al.  In-depth proteomic analysis of mammalian mitochondria-associated membranes (MAM). , 2013, Journal of proteomics.

[34]  M. Permutt,et al.  Early Brain Vulnerability in Wolfram Syndrome , 2012, PloS one.

[35]  L. Rigoli,et al.  Wolfram syndrome 1 and Wolfram syndrome 2 , 2012, Current opinion in pediatrics.

[36]  N. Miller,et al.  Optic Nerve Histopathology in a Case of Wolfram Syndrome Demonstrates a Mitochondrial Pattern of Axonal Loss , 2012 .

[37]  L. Rigoli,et al.  Wolfram syndrome 1 and Wolfram syndrome 2 : clinical implications for pediatricians , 2012 .

[38]  V. Mootha,et al.  Atypical case of Wolfram syndrome revealed through targeted exome sequencing in a patient with suspected mitochondrial disease , 2012, BMC Medical Genetics.

[39]  G. Savini,et al.  Retinal nerve fiber layer thickness in dominant optic atrophy measurements by optical coherence tomography and correlation with age. , 2011, Ophthalmology.

[40]  Y. Hathout,et al.  Quantitative Proteomic Analyses of Human Cytomegalovirus-Induced Restructuring of Endoplasmic Reticulum-Mitochondrial Contacts at Late Times of Infection* , 2011, Molecular & Cellular Proteomics.

[41]  K. Arnos,et al.  Identification of p.A684V missense mutation in the WFS1 gene as a frequent cause of autosomal dominant optic atrophy and hearing impairment , 2011, American journal of medical genetics. Part A.

[42]  S. A. E. Mkadem,et al.  Neurologic features and genotype‐phenotype correlation in Wolfram syndrome , 2011, Annals of neurology.

[43]  M. Zeviani,et al.  Defective mitochondrial adenosine triphosphate production in skeletal muscle from patients with dominant optic atrophy due to OPA1 mutations. , 2011, Archives of neurology.

[44]  P. Pinton,et al.  Isolation of mitochondria-associated membranes and mitochondria from animal tissues and cells , 2009, Nature Protocols.

[45]  Joe C. Adams,et al.  Wolfram syndrome: a clinicopathologic correlation , 2009, Acta Neuropathologica.

[46]  Fu-Chin Liu,et al.  Cisd2 deficiency drives premature aging and causes mitochondria-mediated defects in mice. , 2009, Genes & development.

[47]  R. Youle,et al.  OPA1 mutations associated with dominant optic atrophy impair oxidative phosphorylation and mitochondrial fusion. , 2008, Brain : a journal of neurology.

[48]  M. Zhang,et al.  A homozygous mutation in a novel zinc-finger protein, ERIS, is responsible for Wolfram syndrome 2. , 2007, American journal of human genetics.

[49]  H. Katagiri,et al.  WFS1 protein modulates the free Ca2+ concentration in the endoplasmic reticulum , 2006, FEBS letters.

[50]  Jörn Diedrichsen,et al.  A spatially unbiased atlas template of the human cerebellum , 2006, NeuroImage.

[51]  A. Fielder,et al.  Mitochondrial abnormalities in the DIDMOAD syndrome , 1992, Journal of Inherited Metabolic Disease.

[52]  Kathryn L. Lipson,et al.  WFS1 Is a Novel Component of the Unfolded Protein Response and Maintains Homeostasis of the Endoplasmic Reticulum in Pancreatic β-Cells* , 2005, Journal of Biological Chemistry.

[53]  G. Savini,et al.  Correlation between retinal nerve fibre layer thickness and optic nerve head size: an optical coherence tomography study , 2005, British Journal of Ophthalmology.

[54]  V. Carelli,et al.  Mitochondrial dysfunction as a cause of optic neuropathies , 2004, Progress in Retinal and Eye Research.

[55]  M. Permutt,et al.  Wolframin Expression Induces Novel Ion Channel Activity in Endoplasmic Reticulum Membranes and Increases Intracellular Calcium* , 2003, Journal of Biological Chemistry.

[56]  B. Dallapiccola,et al.  Molecular detection of novel WFS1 mutations in patients with Wolfram syndrome by a DHPLC‐based assay , 2003, Human mutation.

[57]  B. Barbiroli,et al.  'Secondary' 4216/ND1 and 13708/ND5 Leber's hereditary optic neuropathy mitochondrial DNA mutations do not further impair in vivo mitochondrial oxidative metabolism when associated with the 11778/ND4 mitochondrial DNA mutation. , 2000, Brain : a journal of neurology.

[58]  A. Seller,et al.  The mitochondrial genome in Wolfram syndrome , 2000, Journal of medical genetics.

[59]  C. Baird,et al.  The pilot study. , 2000, Orthopedic nursing.

[60]  P. Behn,et al.  A gene encoding a transmembrane protein is mutated in patients with diabetes mellitus and optic atrophy (Wolfram syndrome) , 1998, Nature Genetics.

[61]  M. Votruba,et al.  Clinical features, molecular genetics, and pathophysiology of dominant optic atrophy. , 1998, Journal of medical genetics.

[62]  X. Estivill,et al.  Autosomal recessive Wolfram syndrome associated with an 8.5-kb mtDNA single deletion. , 1996, American journal of human genetics.

[63]  X. Estivill,et al.  A nuclear defect in the 4p16 region predisposes to multiple mitochondrial DNA deletions in families with Wolfram syndrome. , 1996, The Journal of clinical investigation.

[64]  G. Plazzi,et al.  Abnormal lactate after effort in healthy carriers of Leber's hereditary optic neuropathy. , 1995, Journal of neurology, neurosurgery, and psychiatry.

[65]  D. Turnbull,et al.  Biochemical and Molecular Studies of Mitochondrial Function in Diabetes Insipidus, Diabetes Mellitus, Optic Atrophy, and Deafness , 1994, Diabetes Care.

[66]  C. Milgrom,et al.  A REPORT OF FOUR CASES , 1994 .

[67]  A. Fielder,et al.  Wolfram syndrome: mitochondrial disorder , 1993, The Lancet.

[68]  J. Rotter,et al.  Wolfram syndrome: a mitochondrial-mediated disorder? , 1993, The Lancet.

[69]  H. P. Wagener,et al.  DIABETES MELLITUS AND SIMPLE OPTIC ATROPHY AMONG SIBLINGS: REPORT OF FOUR CASES , 1938 .

[70]  H. Himwich,et al.  STUDIES OF THE EFFECT OF EXERCISE IN DIABETES I. CHANGES IN ACID-BASE EQUILIBRIUM AND THEIR RELATION TO THE ACCUMULATION OF LACTIC ACID AND ACETONE , 1924 .