Wolfram Syndrome: Diagnosis, Management, and Treatment

[1]  T. Hershey,et al.  Selective cognitive and psychiatric manifestations in Wolfram Syndrome , 2015, Orphanet Journal of Rare Diseases.

[2]  M. Borowiec,et al.  Retinal Thinning as a Marker of Disease Progression in Patients With Wolfram Syndrome , 2015, Diabetes Care.

[3]  G. Rutter,et al.  Sarco(endo)plasmic reticulum ATPase is a molecular partner of Wolfram syndrome 1 protein, which negatively regulates its expression. , 2015, Human molecular genetics.

[4]  M. Borowiec,et al.  Central Nervous System PET-CT Imaging Reveals Regional Impairments in Pediatric Patients with Wolfram Syndrome , 2014, PloS one.

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

[6]  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.

[7]  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.

[8]  M. Saarma,et al.  MANF is indispensable for the proliferation and survival of pancreatic β cells. , 2014, Cell reports.

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

[10]  F. Urano.  Diabetes: Targeting endoplasmic reticulum to combat juvenile diabetes , 2014, Nature Reviews Endocrinology.

[11]  W. Chung,et al.  β-Cell Dysfunction Due to Increased ER Stress in a Stem Cell Model of Wolfram Syndrome , 2014, Diabetes.

[12]  F. Urano.  Wolfram Syndrome iPS Cells: The First Human Cell Model of Endoplasmic Reticulum Disease , 2014, Diabetes.

[13]  V. Tabar,et al.  Pluripotent stem cells in regenerative medicine: challenges and recent progress , 2014, Nature Reviews Genetics.

[14]  D. Mathis,et al.  Restoration of the Unfolded Protein Response in Pancreatic β Cells Protects Mice Against Type 1 Diabetes , 2013, Science Translational Medicine.

[15]  T. Hullar,et al.  Audiologic and Vestibular Findings in Wolfram Syndrome , 2013, Ear and hearing.

[16]  Rachel L. Goldfeder,et al.  Autosomal Dominant Diabetes Arising From a Wolfram Syndrome 1 Mutation , 2013, Diabetes.

[17]  R. Morimoto,et al.  Send Orders of Reprints at Reprints@benthamscience.net Protein Homeostasis as a Therapeutic Target for Diseases of Protein Conformation † , 2022 .

[18]  A. Sadun,et al.  Visual improvement with the use of idebenone in the treatment of Wolfram syndrome. , 2012, Journal of neuro-ophthalmology : the official journal of the North American Neuro-Ophthalmology Society.

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

[20]  R. Kaufman,et al.  The impact of the unfolded protein response on human disease , 2012, The Journal of cell biology.

[21]  C. Nunemaker,et al.  The central role of calcium in the effects of cytokines on beta-cell function: implications for type 1 and type 2 diabetes. , 2011, Cell calcium.

[22]  F. Urano,et al.  Endoplasmic reticulum stress and pancreatic β-cell death , 2011, Trends in Endocrinology & Metabolism.

[23]  M. Permutt,et al.  Wolfram syndrome 1 gene negatively regulates ER stress signaling in rodent and human cells. , 2010, The Journal of clinical investigation.

[24]  Sharath Kumar.  Wolfram syndrome: important implications for pediatricians and pediatric endocrinologists , 2010, Pediatric diabetes.

[25]  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.

[26]  T. Rosenberg,et al.  Mutation analysis of the WFS1 gene in seven Danish Wolfram syndrome families; four new mutations identified , 2005, European Journal of Human Genetics.

[27]  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.

[28]  M. Permutt,et al.  Mice conditionally lacking the Wolfram gene in pancreatic islet beta cells exhibit diabetes as a result of enhanced endoplasmic reticulum stress and apoptosis , 2005, Diabetologia.

[29]  M. Swift,et al.  Wolframin mutations and hospitalization for psychiatric illness , 2005, Molecular Psychiatry.

[30]  F. Ortis,et al.  Cytokines downregulate the sarcoendoplasmic reticulum pump Ca2+ ATPase 2b and deplete endoplasmic reticulum Ca2+, leading to induction of endoplasmic reticulum stress in pancreatic beta-cells. , 2005, Diabetes.

[31]  H. Katagiri,et al.  Disruption of the WFS1 gene in mice causes progressive beta-cell loss and impaired stimulus-secretion coupling in insulin secretion. , 2004, Human molecular genetics.

[32]  C. Cremers,et al.  Mutational spectrum of the WFS1 gene in Wolfram syndrome, nonsyndromic hearing impairment, diabetes mellitus, and psychiatric disease , 2003, Human mutation.

[33]  James W. Hall,et al.  Mutations in the Wolfram syndrome type 1 gene (WFS1) define a clinical entity of dominant low-frequency sensorineural hearing loss. , 2003, Archives of otolaryngology--head & neck surgery.

[34]  David I. Smith,et al.  MANF: a new mesencephalic, astrocyte-derived neurotrophic factor with selectivity for dopaminergic neurons. , 2003, Journal of molecular neuroscience : MN.

[35]  M. El-Zaheri,et al.  Wolfram syndrome: identification of a phenotypic and genotypic variant from Jordan. , 2002, American journal of medical genetics.

[36]  S. Leal,et al.  Mutations in the Wolfram syndrome 1 gene (WFS1) are a common cause of low frequency sensorineural hearing loss. , 2001, Human molecular genetics.

[37]  O. Oge,et al.  Urological manifestations of the Wolfram syndrome: observations in 14 patients. , 1999, The Journal of urology.

[38]  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.

[39]  T. Barrett,et al.  Wolfram (DIDMOAD) syndrome. , 1997, Journal of medical genetics.

[40]  William J. Welch,et al.  Influence of molecular and chemical chaperones on protein folding. , 1996, Cell stress & chaperones.

[41]  T. Barrett,et al.  Neurodegeneration and diabetes: UK nationwide study of Wolfram (DIDMOAD) syndrome , 1995, The Lancet.

[42]  B. Kinsley,et al.  Morbidity and Mortality in the Wolfram Syndrome , 1995, Diabetes Care.

[43]  D. Perkins,et al.  Psychiatric disorders in 36 families with Wolfram syndrome. , 1991, The American journal of psychiatry.

[44]  K. Higashi.  Otologic findings of DIDMOAD syndrome. , 1991, The American journal of otology.

[45]  M. Swift,et al.  Psychiatric findings in Wolfram syndrome homozygotes , 1990, The Lancet.

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

[47]  J. Andressoo,et al.  MANF is indispensable for the proliferation and survival of pancreatic beta-cells , 2022 .