Results 1 to 10 of about 384 (136)

Calcium Signaling and Contractility in Cardiac Myocyte of Wolframin Deficient Rats [PDF]

Frontiers in Physiology, 2019
Wolframin (Wfs1) is a membrane protein of the sarco/endoplasmic reticulum. Wfs1 mutations are responsible for the Wolfram syndrome, characterized by diabetic and neurological symptoms. Although Wfs1 is expressed in cardiac muscle, its role in this tissue
Ivan Zahradník, Michal Cagalinec, Ludovít Paulis   +2 more
exaly   +7 more sources

The Impact of Mutations in Wolframin on Psychiatric Disorders [PDF]

Frontiers in Pediatrics, 2021
Wolfram Syndrome is a rare autosomal recessive disease characterized by early-onset diabetes mellitus, neurodegeneration, and psychological disorders. Mutations in the gene WFS1, coding for the protein wolframin, cause Wolfram Syndrome and are associated
Saira Munshani, Eiman Y. Ibrahim, Eiman Y. Ibrahim, Ilaria Domenicano, Barbara E. Ehrlich   +4 more
doaj   +4 more sources

Genetics Influences Drug Consumption in Medication Overuse Headache, Not in Migraine: Evidence From Wolframin His611Arg Polymorphism Analysis [PDF]

Frontiers in Neurology, 2021
Background: The Wolframin His611Arg polymorphism can influence drug consumption in psychiatric patients with impulsive addictive behavior. This cross-sectional study aims to assess the prevalence of the Wolframin His611Arg polymorphism in MOH, a ...
Giorgio di Lorenzo, Filippo M Santorelli, Gianluca Coppola   +2 more
exaly   +5 more sources

Wolframin deficiency is accompanied with metabolic inflexibility in rat striated muscles

Biochemistry and Biophysics Reports, 2022
The protein wolframin is localized in the membrane of the endoplasmic reticulum (ER), influencing Ca2+ metabolism and ER interaction with mitochondria, but the exact role of the protein remains unclear.
Tuuli Käämbre, Kersti Tepp, Natalja Timohhina   +2 more
exaly   +5 more sources

NCS1 overexpression restored mitochondrial activity and behavioral alterations in a zebrafish model of Wolfram syndrome

Molecular Therapy: Methods & Clinical Development, 2022
Wolfram syndrome (WS) is a rare neurodegenerative disease resulting in deafness, optic atrophy, diabetes, and neurological disorders. Currently, no treatment is available for patients. The mutated gene, WFS1, encodes an endoplasmic reticulum (ER) protein,
Lucie Crouzier, Elodie M. Richard, Camille Diez, Morgane Denus, Amandine Peyrel, Hala Alzaeem, Nicolas Cubedo, Thomas Delaunay, Tangui Maurice, Benjamin Delprat   +9 more
doaj   +1 more source

Identification of pathogenic mutations for a Wolfram syndrome pedigree by whole exome sequencing and analysis of its clinical characteristics

Shanghai Jiaotong Daxue xuebao. Yixue ban, 2023
Objective·To identify the causative gene and mutations and describe the clinical traits in a Chinese diabetes pedigree suspected of Wolfram syndrome.Methods·A total of 12 subjects from one family were included.
MENG Xiangyu, YAN Dandan, CHEN Xianghui, LAI Siyu, XU Yun, GENG Ruina, ZHANG Hong, ZHANG Rong, HU Cheng, YAN Jing   +9 more
doaj   +1 more source

Multiple Retinal Anomalies in Wfs1-Deficient Mice

Diagnostics, 2020
Background: Wolfram syndrome (WFS, OMIM: #222300) is an ultrarare autosomal recessive disorder characterized by diabetes insipidus, diabetes mellitus, optic nerve atrophy and deafness.
Arleta Waszczykowska, Agnieszka Zmysłowska, Marcin Braun, Marilin Ivask, Sulev Koks, Piotr Jurowski, Wojciech Młynarski   +6 more
doaj   +1 more source

MCT1-dependent energetic failure and neuroinflammation underlie optic nerve degeneration in Wolfram syndrome mice

eLife, 2023
Wolfram syndrome 1 (WS1) is a rare genetic disorder caused by mutations in the WFS1 gene leading to a wide spectrum of clinical dysfunctions, among which blindness, diabetes, and neurological deficits are the most prominent.
Greta Rossi, Gabriele Ordazzo, Niccolò N Vanni, Valerio Castoldi, Angelo Iannielli, Dario Di Silvestre, Edoardo Bellini, Letizia Bernardo, Serena G Giannelli, Mirko Luoni, Sharon Muggeo, Letizia Leocani, PierLuigi Mauri, Vania Broccoli   +13 more
doaj   +1 more source

Insights from a Wolfram syndrome cohort: clinical and molecular findings from a specialized diabetes reference center [PDF]

Archives of Endocrinology and Metabolism
Objective: Considering the rarity and clinical and molecular diversity of Wolfram syndrome (WS), the objective of this study was to identify patients with a clinical presentation suggestive of WS following up at a single Brazilian diabetes service and ...
Carolina Paniago Lopes, Gentil Ferreira Gonçalves Neto, Maria Fernanda Vanti Macedo Paulino, Adriana Mangue Esquiaveto-Aun, Maricilda Palandi de Mello, Elizabeth João Pavin, Ikaro Soares Santos Breder, Mariana Zorron Mei Hsia Pu, Sofia Helena Valente de Lemos-Marini, Gil Guerra Junior   +9 more
doaj   +1 more source

The molecular effect of a polymorphic microRNA binding site of Wolfram syndrome 1 gene in dogs

BMC Genetics, 2020
Background Although the molecular function of wolframin remains unclear, the lack of this protein is known to cause stress in the endoplasmic reticulum.
Dora Koller, Eniko Kubinyi, Zsuzsanna Elek, Helga Nemeth, Adam Miklosi, Maria Sasvari-Szekely, Zsolt Ronai   +6 more
doaj   +1 more source