Literature DB >> 31420094

Current Landscape of Treatments for Wolfram Syndrome.

Damien Abreu1, Fumihiko Urano2.   

Abstract

Wolfram syndrome is a rare genetic spectrum disorder characterized by insulin-dependent diabetes mellitus, optic nerve atrophy, and progressive neurodegeneration, and ranges from mild to severe clinical symptoms. There is currently no treatment to delay, halt, or reverse the progression of Wolfram syndrome, raising the urgency for innovative therapeutics for this disease. Here, we summarize our vision for developing novel treatment strategies and achieving a cure for Wolfram-syndrome-spectrum disorder.
Copyright © 2019 The Author(s). Published by Elsevier Ltd.. All rights reserved.

Entities:  

Keywords:  WFS1; Wolfram syndrome; endoplasmic reticulum; gene therapy; regenerative therapy

Mesh：

Year:  2019        PMID： 31420094      PMCID： PMC7547529          DOI： 10.1016/j.tips.2019.07.011

Source DB:  PubMed          Journal:  Trends Pharmacol Sci        ISSN： 0165-6147            Impact factor:   14.819


  20 in total

1.  Mutations in the Wolfram syndrome type 1 gene (WFS1) define a clinical entity of dominant low-frequency sensorineural hearing loss.

Authors:  Marci M Lesperance; James W Hall; Theresa B San Agustin; Suzanne M Leal
Journal:  Arch Otolaryngol Head Neck Surg       Date:  2003-04

2.  Dominant ER Stress-Inducing WFS1 Mutations Underlie a Genetic Syndrome of Neonatal/Infancy-Onset Diabetes, Congenital Sensorineural Deafness, and Congenital Cataracts.

Authors:  Elisa De Franco; Sarah E Flanagan; Takuya Yagi; Damien Abreu; Jana Mahadevan; Matthew B Johnson; Garan Jones; Fernanda Acosta; Mphele Mulaudzi; Ngee Lek; Vera Oh; Oliver Petz; Richard Caswell; Sian Ellard; Fumihiko Urano; Andrew T Hattersley
Journal:  Diabetes       Date:  2017-05-03       Impact factor: 9.461

3.  Wolfram syndrome 1 gene negatively regulates ER stress signaling in rodent and human cells.

Authors:  Sonya G Fonseca; Shinsuke Ishigaki; Christine M Oslowski; Simin Lu; Kathryn L Lipson; Rajarshi Ghosh; Emiko Hayashi; Hisamitsu Ishihara; Yoshitomo Oka; M Alan Permutt; Fumihiko Urano
Journal:  J Clin Invest       Date:  2010-02-15       Impact factor: 14.808

4.  Wolfram gene (WFS1) mutation causes autosomal dominant congenital nuclear cataract in humans.

Authors:  Vanita Berry; Cheryl Gregory-Evans; Warren Emmett; Naushin Waseem; Jacob Raby; DeQuincy Prescott; Anthony T Moore; Shomi S Bhattacharya
Journal:  Eur J Hum Genet       Date:  2013-03-27       Impact factor: 4.246

5.  MANF is indispensable for the proliferation and survival of pancreatic β cells.

Authors:  Maria Lindahl; Tatiana Danilova; Erik Palm; Päivi Lindholm; Vootele Võikar; Elina Hakonen; Jarkko Ustinov; Jaan-Olle Andressoo; Brandon K Harvey; Timo Otonkoski; Jari Rossi; Mart Saarma
Journal:  Cell Rep       Date:  2014-04-13       Impact factor: 9.423

6.  Autosomal dominant diabetes arising from a Wolfram syndrome 1 mutation.

Authors:  Lori L Bonnycastle; Peter S Chines; Takashi Hara; Jeroen R Huyghe; Amy J Swift; Pirkko Heikinheimo; Jana Mahadevan; Sirkku Peltonen; Hanna Huopio; Pirjo Nuutila; Narisu Narisu; Rachel L Goldfeder; Michael L Stitzel; Simin Lu; Michael Boehnke; Fumihiko Urano; Francis S Collins; Markku Laakso
Journal:  Diabetes       Date:  2013-07-31       Impact factor: 9.461

7.  Role of Mitochondrial Dynamics in Neuronal Development: Mechanism for Wolfram Syndrome.

Authors:  Michal Cagalinec; Mailis Liiv; Zuzana Hodurova; Miriam Ann Hickey; Annika Vaarmann; Merle Mandel; Akbar Zeb; Vinay Choubey; Malle Kuum; Dzhamilja Safiulina; Eero Vasar; Vladimir Veksler; Allen Kaasik
Journal:  PLoS Biol       Date:  2016-07-19       Impact factor: 8.029

8.  Wolfram syndrome iPS cells: the first human cell model of endoplasmic reticulum disease.

Authors:  Fumihiko Urano
Journal:  Diabetes       Date:  2014-03       Impact factor: 9.461

9.  β-cell dysfunction due to increased ER stress in a stem cell model of Wolfram syndrome.

Authors:  Linshan Shang; Haiqing Hua; Kylie Foo; Hector Martinez; Kazuhisa Watanabe; Matthew Zimmer; David J Kahler; Matthew Freeby; Wendy Chung; Charles LeDuc; Robin Goland; Rudolph L Leibel; Dieter Egli
Journal:  Diabetes       Date:  2013-11-13       Impact factor: 9.461

Review 10.  Wolfram Syndrome: Diagnosis, Management, and Treatment.

Authors:  Fumihiko Urano
Journal:  Curr Diab Rep       Date:  2016-01       Impact factor: 4.810
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  17 in total

1.  A Computational Approach for Defining a Signature of β-Cell Golgi Stress in Diabetes.

Authors:  Robert N Bone; Olufunmilola Oyebamiji; Sayali Talware; Sharmila Selvaraj; Preethi Krishnan; Farooq Syed; Huanmei Wu; Carmella Evans-Molina
Journal:  Diabetes       Date:  2020-08-20       Impact factor: 9.461

Review 2.  Collaboration for rare diabetes: understanding new treatment options for Wolfram syndrome.

Authors:  Felix Reschke; Julia Rohayem; Pietro Maffei; Francesca Dassie; Anke Schwandt; Carine de Beaufort; Sonia Toni; Agnieszka Szypowska; Roque Cardona-Hernandez; Nicolin Datz; Katharina Klee; Thomas Danne
Journal:  Endocrine       Date:  2021-02-01       Impact factor: 3.633

3.  Human iPSC-derived neurons reveal early developmental alteration of neurite outgrowth in the late-occurring neurodegenerative Wolfram syndrome.

Authors:  Sandra Pourtoy-Brasselet; Axel Sciauvaud; Maria-Gabriela Boza-Moran; Michel Cailleret; Margot Jarrige; Hélène Polvèche; Jérôme Polentes; Eric Chevet; Cécile Martinat; Marc Peschanski; Laetitia Aubry
Journal:  Am J Hum Genet       Date:  2021-10-25       Impact factor: 11.025

Review 4.  Diabetes Out-of-the-Box: Diabetes Mellitus and Impairment in Hearing and Vision.

Authors:  Noah Gruber; Orit Pinhas-Hamiel
Journal:  Curr Diab Rep       Date:  2022-07-05       Impact factor: 5.430

5.  Activation of the sigma-1 receptor chaperone alleviates symptoms of Wolfram syndrome in preclinical models.

Authors:  Lucie Crouzier; Alberto Danese; Yuko Yasui; Elodie M Richard; Jean-Charles Liévens; Simone Patergnani; Simon Couly; Camille Diez; Morgane Denus; Nicolas Cubedo; Mireille Rossel; Marc Thiry; Tsung-Ping Su; Paolo Pinton; Tangui Maurice; Benjamin Delprat
Journal:  Sci Transl Med       Date:  2022-02-09       Impact factor: 19.319

6.  Unique three-site compound heterozygous mutation in the WFS1 gene in Wolfram syndrome.

Authors:  Ziyu Ren; Jixiu Yi; Min Zhong; Yunting Wang; Qicong Liu; Xuan Wang; Dongfang Liu; Wei Ren
Journal:  BMC Endocr Disord       Date:  2021-08-17       Impact factor: 2.763

7.  De Novo Mutations in EIF2B1 Affecting eIF2 Signaling Cause Neonatal/Early-Onset Diabetes and Transient Hepatic Dysfunction.

Authors:  Elisa De Franco; Richard Caswell; Matthew B Johnson; Matthew N Wakeling; Amnon Zung; Vũ Chí Dũng; Cấn Thị Bích Ngọc; Rajiv Goonetilleke; Maritza Vivanco Jury; Mohammed El-Khateeb; Sian Ellard; Sarah E Flanagan; David Ron; Andrew T Hattersley
Journal:  Diabetes       Date:  2019-12-27       Impact factor: 9.461

8.  Gene-edited human stem cell-derived β cells from a patient with monogenic diabetes reverse preexisting diabetes in mice.

Authors:  Kristina G Maxwell; Punn Augsornworawat; Leonardo Velazco-Cruz; Michelle H Kim; Rie Asada; Nathaniel J Hogrebe; Shuntaro Morikawa; Fumihiko Urano; Jeffrey R Millman
Journal:  Sci Transl Med       Date:  2020-04-22       Impact factor: 17.956

9.  A soluble endoplasmic reticulum factor as regenerative therapy for Wolfram syndrome.

Authors:  Jana Mahadevan; Shuntaro Morikawa; Takuya Yagi; Damien Abreu; Simin Lu; Kohsuke Kanekura; Cris M Brown; Fumihiko Urano
Journal:  Lab Invest       Date:  2020-05-04       Impact factor: 5.662

10.  Monogenic and syndromic diabetes due to endoplasmic reticulum stress.

Authors:  Stephen I Stone; Damien Abreu; Janet B McGill; Fumihiko Urano
Journal:  J Diabetes Complications       Date:  2020-05-08       Impact factor: 2.852
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