Results 11 to 20 of about 384 (136)

Localization and distribution of wolframin in human female reproductive tract [PDF]

Italian Journal of Anatomy and Embryology, 2011
Wolframin, a transmembrane glycoprotein of endoplasmic reticulum consisting of 890 amino acids, is encoded by the WFS1 gene, mutated in the Wolfram syndrome. This pathology, also called DIDMOAD, is an autosomal recessive disorder defined by the association of diabetes mellitus, optic atrophy, and further organ abnormalities.
Lucariello, A, Perna, A, Manente, L, Palladino, R, De Falco, M, DE LUCA, Antonio   +5 more
openaire   +4 more sources

Exenatide Is an Effective Antihyperglycaemic Agent in a Mouse Model of Wolfram Syndrome 1

Journal of Diabetes Research, 2016
Wolfram syndrome 1 is a very rare monogenic disease resulting in a complex of disorders including diabetes mellitus. Up to now, insulin has been used to treat these patients. Some of the monogenic forms of diabetes respond preferentially to sulphonylurea
Tuuli Sedman, Kertu Rünkorg, Maarja Krass, Hendrik Luuk, Mario Plaas, Eero Vasar, Vallo Volke   +6 more
doaj   +2 more sources

Proteomic dataset of wolframin-deficient mouse heart and skeletal muscles

Data in Brief, 2018
The data presented in this article are related to the research article entitled ''Increased Mitochondrial Protein Levels and Bioenergetics in the musculus rectus femoris of Wfs1-Deficient mice'' (Eimre et al., accepted for publication).
Margus Eimre, Sergo Kasvandik, Marilin Ivask, Sulev Kõks   +3 more
doaj   +3 more sources

Modulation of Wolframin Expression in Human Placenta during Pregnancy: Comparison among Physiological and Pathological States [PDF]

BioMed Research International, 2014
TheWFS1gene, encoding a transmembrane glycoprotein of the endoplasmic reticulum called wolframin, is mutated in Wolfram syndrome, an autosomal recessive disorder defined by the association of diabetes mellitus, optic atrophy, and further organ abnormalities.
Angela Lucariello, Angelica Perna, Carmine Sellitto, Alfonso Baldi, Alessandro Iannaccone, Luigi Cobellis, Antonio De Luca, Maria De Falco   +7 more
openaire   +5 more sources

Wolfram syndrome: structural and functional analyses of mutant and wild-type wolframin, the WFS1 gene product [PDF]

Human Molecular Genetics, 2003
Mutations of the WFS1 gene are responsible for Wolfram syndrome, a rare, recessive disorder characterized by early-onset, non-autoimmune diabetes mellitus, optic atrophy and further neurological and endocrinological abnormalities. The WFS1 gene encodes wolframin, a putative multispanning membrane glycoprotein of the endoplasmic reticulum.
Sabine, Hofmann, Christine, Philbrook, Klaus-Dieter, Gerbitz, Matthias F, Bauer   +3 more
openaire   +3 more sources

Adaptation of striated muscles to Wolframin deficiency in mice: Alterations in cellular bioenergetics [PDF]

Biochimica et Biophysica Acta (BBA) - General Subjects, 2020
Wolfram syndrome (WS), caused by mutations in WFS1 gene, is a multi-targeting disease affecting multiple organ systems. 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.
Tepp, Kersti, Puurand, Marju, Timohhina, Natalja, Aid-Vanakova, Jekaterina, Reile, Indrek, Shevchuk, Igor, Chekulayev, Vladimir, Eimre, Margus, Peet, Nadežda, Kadaja, Lumme, Paju, Kalju, Käämbre, Tuuli   +11 more
openaire   +5 more sources

Male mice with deleted Wolframin (Wfs1) gene have reduced fertility [PDF]

Reproductive Biology and Endocrinology, 2009
Background Wolfram Syndrome (WS) is an autosomal recessive disorder characterised by non-autoimmune diabetes mellitus, optic atrophy, cranial diabetes insipidus and sensorineural deafness. Some reports have described hypogonadism in male WS patients. The
Aunapuu Marina, Arend Andres, Kavak Ants, Kõks Sulev, Noormets Klari, Keldrimaa Aivi, Vasar Eero, Tillmann Vallo   +7 more
doaj   +3 more sources

Characterization of Novel WFS1 Variants in Three Diabetes Pedigrees

Journal of Diabetes
Background Mutations in the WFS1 gene are implicated in Wolfram syndrome (WS), Wolfram‐like syndrome (WFLS), and maturity‐onset diabetes of the young (MODY).
ChangQing Liu, HangYu Fang, Dong Wang, YiPing Cheng, Ping Shi, ChunXiao Yu, XiaoHong Li, Hui Zhao, Wei Hou, ZhenKui Guo, Chao Xu, QingBo Guan   +11 more
doaj   +2 more sources

Sex Differences in the Development of Diabetes in Mice with Deleted Wolframin (Wfs1) Gene

Experimental and Clinical Endocrinology & Diabetes, 2010
Wolfram syndrome, caused by mutations in the wolframin (Wfs1) gene, is characterised by juvenile-onset diabetes mellitus, progressive optic atrophy, diabetes insipidus and deafness. Diabetes tend to start earlier in boys. This study investigated sex differences in longitudinal changes in blood glucose concentration (BGC) in wolframin-deficient mice ...
Noormets, K., Kõks, S., Muldmaa, M., Mauring, L., Vasar, E., Tillmann, V.   +5 more
openaire   +3 more sources

Energy Metabolism and Thyroid Function of Mice with Deleted Wolframin (Wfs1) Gene

Experimental and Clinical Endocrinology & Diabetes, 2014
There is no data about the energy metabolism of patients with Wolfram syndrome caused by mutations in the wolframin (Wfs1) gene. The aim of this study was to investigate the role of Wfs1 in energy metabolism and thyroid function in Wfs1 deficient mice (Wfs1KO).
Noormets, K., Kõks, S., Ivask, M., Aunapuu, M., Arend, A., Vasar, E., Tillmann, V.   +6 more
openaire   +3 more sources