Results 121 to 130 of about 3,346,977 (142)

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

Arch Endocrinol Metab
Lopes CP, Gonçalves GF, Paulino MFVM, Esquiaveto-Aun AM, de Mello MP, Pavin EJ, Breder ISS, Pu MZMH, de Lemos-Marini SHV, Guerra G.   +9 more
europepmc   +1 more source

WFS1 Gene Mutation (c.2389G > A) Induces Immune Disorders by Promoting DC Maturation through Inhibition of TMEM176A. [PDF]

Inflammation
Lin W, Qiu Y, Tan C, Liu Z, Yang Y, He Y, Zhao J, Cheng J, Wang Z, Li M, Wang L, Wang M, Zhang M.   +12 more
europepmc   +1 more source

Localization and distribution of wolframin in human tissues

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
Alessandro Iannaccone, Angela Lucariello, Antonio de Luca   +2 more
exaly   +3 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.
Bauer, Matthias F., Sabine Hofmann, Hofmann, Sabine, Matthias F. Bauer   +3 more
exaly   +2 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   +3 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   +2 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.
Hongjun Fu, Sulev Koks, Douglas Scharre   +2 more
exaly   +2 more sources

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

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.
Markus Preißing, Christoph Schmitz, C Kathleen Dorey   +2 more
exaly   +2 more sources

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Identification and Characterization of Wolframin, the Product of the Wolfram Syndrome Gene (WFS1), as a Novel Calmodulin-Binding Protein

Biochemistry, 2009
To search for calmodulin (CaM) targets, we performed affinity chromatography purification of a rat brain extract using CaM fused with GST as the affinity ligand. Proteomic analysis was then carried out to identify CaM-binding proteins. In addition to identifying 36 known CaM-binding proteins, including CaM kinases, calcineurin, nNOS, the IP(3) receptor,
Saki, Yurimoto, Naoya, Hatano, Mitsumasa, Tsuchiya, Kiyohito, Kato, Tomohito, Fujimoto, Tsutomu, Masaki, Ryoji, Kobayashi, Hiroshi, Tokumitsu   +7 more
openaire   +2 more sources