Results 11 to 20 of about 3,346,977 (142)

The Impact of Mutations in Wolframin on Psychiatric Disorders

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   +2 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.
Kersti Tepp, Jekaterina Aid-Vanakova, Marju Puurand, Natalja Timohhina, Leenu Reinsalu, Karin Tein, Mario Plaas, Igor Shevchuk, Anton Terasmaa, Tuuli Kaambre   +9 more
doaj   +3 more sources

Mutation analysis of pathogenic non-synonymous single nucleotide polymorphisms (nsSNPs) in WFS1 gene through computational approaches [PDF]

Scientific Reports, 2023
A single base changes causing a change to the amino acid sequence of the encoded protein, which is defined as non-synonymous single nucleotide polymorphisms (nsSNPs).
Jing Zhao, Siqi Zhang, Yuan Jiang, Yan Liu, Qingwen Zhu   +4 more
doaj   +2 more sources

Hyperglycemic Hyperosmolar State as the Initial Presentation of Wolfram Syndrome: A Common Complication Revealing a Rare Disease-A Case Report. [PDF]

Clin Case Rep
MRI brain revealing features consistent with central diabetes insipidus (Figure A), pontine atrophy (Figure B), and bilateral optic nerve atrophy (Figure C) in a young, non‐autoimmune diabetic patient: imaging clue to Wolfram syndrome. ABSTRACT Wolfram syndrome is a rare autosomal recessive disorder characterized by diabetes insipidus, diabetes ...
Ingawale S, Shinde I, Rachakonda ST, Pandey A, Shah A.   +4 more
europepmc   +2 more sources

Calcium Signaling and Contractility in Cardiac Myocyte of Wolframin Deficient Rats

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
Michal Cagalinec, Michal Cagalinec, Michal Cagalinec, Alexandra Zahradníková, Alexandra Zahradníková, Alexandra Zahradníková, Alexandra Zahradníková, Dominika Kováčová, Ludovit Paulis, Ludovit Paulis, Simona Kureková, Matej Hot’ka, Matej Hot’ka, Jana Pavelková, Jana Pavelková, Mario Plaas, Marta Novotová, Marta Novotová, Ivan Zahradník, Ivan Zahradník   +19 more
doaj   +3 more sources

Navigating the Genetic Risk of Chemotherapy-Induced Hearing Loss in the Stria Vascularis. [PDF]

Clin Pharmacol Ther
Cisplatin is a chemotherapy drug that causes permanent hearing loss by damaging a critical tissue lining the inner ear, called the stria vascularis (SV). Currently, the molecular mechanisms of SV damage are largely unknown and the incidence of ototoxicity in patients cannot be reliably predicted.
Lazetic T, Miao DNR, Drögemöller BI, Dabdoub A, Abitbol JM.   +4 more
europepmc   +2 more sources

Diabetes Insipidus as an Early Clinical Indicator of Wolfram Syndrome Type 1: Evidence From a Symptom-Based Screening Approach. [PDF]

Pediatr Diabetes
Objective: Wolfram Syndrome Type 1 (WS1) is a rare neurodegenerative disorder characterized by diabetes insipidus (DI), diabetes mellitus (DM), optic atrophy (OA), and deafness (D) due to biallelic mutations in the WFS1 gene. As the cardinal symptoms of DI, polyuria and polydipsia, overlap with those of DM, DI might be underdiagnosed or delayed in the ...
Gundogdu Ogutlu OB, Cayır A, Donmez AS, Koca SB, Yarali O, Demirbilek H.   +5 more
europepmc   +2 more sources

Novel WFS1 variants are associated with different diabetes phenotypes [PDF]

Frontiers in Genetics
BackgroundThe WFS1 gene encodes the protein wolframin, which is crucial for maintaining endoplasmic reticulum homeostasis. Variants in this gene are predominantly associated with Wolfram syndrome and have been implicated in other disorders such as ...
Lei Wu, Juan Zhang, Danjie Li, Zhongyun Zhang, Qicheng Ni, Qicheng Ni, Rulai Han, Rulai Han, Lei Ye, Lei Ye, Yifei Zhang, Yifei Zhang, Jie Hong, Jie Hong, Weiqing Wang, Weiqing Wang, Guang Ning, Guang Ning, Weiqiong Gu, Weiqiong Gu   +19 more
doaj   +2 more sources

Mutation analysis of wolfram syndrome patients and functional study of the Wolframin protein [PDF]

, 2013
Mutations of the WFS1 gene are responsible for most cases of Wolfram syndrome (WS), a rare, recessively inherited neurodegenerative disorder characterised by juvenile-onset nonautoimmune diabetes mellitus and optic atrophy.
Prince, Samantha
core   +7 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