Results 101 to 110 of about 384 (136)

Localization and distribution of wolframin in human tissues [PDF]

Frontiers in Bioscience - Elite, 2012
Wolframin is a transmembrane glycoprotein of 890 aminoacids, encoded by WFS1 gene. WFS1 mutations are responsible for Wolfram syndrome, an autosomal recessive disorder. In the present paper, we first characterized the polyclonal wolframin antibody by dot blot.
Alessandro Iannaccone, Angela Lucariello, Antonio de Luca   +2 more
exaly   +8 more sources

Wolframin is a novel regulator of tau pathology and neurodegeneration [PDF]

Acta Neuropathologica, 2022
Selective neuronal vulnerability to protein aggregation is found in many neurodegenerative diseases including Alzheimer's disease (AD). Understanding the molecular origins of this selective vulnerability is, therefore, of fundamental importance. Tau protein aggregates have been found in Wolframin (WFS1)-expressing excitatory neurons in the entorhinal ...
Hongjun Fu, Sulev Koks, Douglas Scharre   +2 more
exaly   +6 more sources

Expression of the diabetes risk gene wolframin (WFS1) in the human retina [PDF]

Experimental Eye Research, 2009
Wolfram syndrome 1 (WFS1, OMIM 222300), a rare genetic disorder characterized by optic nerve atrophy, deafness, diabetes insipidus and diabetes mellitus, is caused by mutations of WFS1, encoding WFS1/wolframin. Non-syndromic WFS1 variants are associated with the risk of diabetes mellitus due to altered function of wolframin in pancreatic islet cells ...
Markus Preißing, Christoph Schmitz, C Kathleen Dorey   +2 more
exaly   +4 more sources

The wolframin His611Arg polymorphism influences medication overuse headache

Neuroscience Letters, 2007
Homozygosis for wolframin (WFS1) mutations determines Wolfram syndrome (WS), and common polymorphisms of WFS1 are associated with psychiatric illnesses and dependence behaviour. To test the influence of WFS1 polymorphisms on medication overuse headache (MOH), a chronic headache condition related to symptomatic drugs overuse, we analyzed 82 MOH patients
Giorgio di Lorenzo, Filippo M Santorelli, Alfonso Troisi   +2 more
exaly   +5 more sources

Wolfram syndrome-associated mutations lead to instability and proteasomal degradation of wolframin [PDF]

FEBS Letters, 2006
Wolfram syndrome is caused by mutations in WFS1 encoding wolframin, a polytopic membrane protein of the endoplasmic reticulum. Here, we investigated the molecular pathomechanisms of four missense and two truncating mutations in WFS1. Expression in COS‐7 cells as well as direct analysis of patient cells revealed that WFS1 mutations lead to drastically ...
Hofmann, Sabine, Bauer, Matthias F.
exaly   +5 more sources

WFS1/wolframin mutations, Wolfram syndrome, and associated diseases

Human Mutation, 2001
Wolfram syndrome (WS) is the inherited association of juvenile-onset insulin-dependant diabetes mellitus and progressive bilateral optic atrophy. A nuclear gene, WFS1/wolframin, was identified that segregated with disease status and demonstrated an autosomal recessive mode of inheritance. Mutation analysis of the WFS1 gene in WS patients has identified
Timothy Barrett, Farhat Khanim, T G Barrett   +2 more
exaly   +4 more sources

Cat odour exposure increases the expression of wolframin gene in the amygdaloid area of rat

Neuroscience Letters, 2002
The aim of the present study was to find the genes expressed in the amygdaloid area after exposure to cat odour. Cat odour exposure was used to induce the ethologically relevant fear response in male rats. The differential expression of genes was analyzed using the cDNA Representational Difference Analysis (RDA).
Eero Vasar, Sulev Koks, Hendrik Luuk
exaly   +4 more sources

Expressional and functional studies of Wolframin, the gene function deficient in Wolfram syndrome, in mice and patient cells

Experimental Gerontology, 2005
Wolfram Syndrome is an autosomal recessive degenerative disorder of the neuroendocrine system. Diabetes mellitus is its lead symptom. Patients show mutations in the wolframin (WFS1) gene coding for a hydrophobic transmembrane protein of 890 amino acids.
Hans Weiher, Eberhard Fritz
exaly   +4 more sources

Wolframin mutations and hospitalization for psychiatric illness [PDF]

Molecular Psychiatry, 2005
Genetic predisposition plays an important role in most common psychiatric disorders. The identification of a specific gene associated with a psychiatric illness can lead to improved management of the gene-associated disorder. Mutations in the wolframin gene are associated with mental illness.
M Swift
exaly   +3 more sources

Reflexions on a newly discovered diabetogenic gene, wolframin (WFS1) [PDF]

Diabetologia, 1999
K D Gerbitz
exaly   +3 more sources