Results 31 to 40 of about 526,926 (248)

TNF receptor–related factor 3 inactivation promotes the development of intrahepatic cholangiocarcinoma through NF‐κB‐inducing kinase–mediated hepatocyte transdifferentiation

Hepatology, EarlyView., 2022
Abstract Background and Aims Intrahepatic cholangiocarcinoma (ICC) is a deadly but poorly understood disease, and its treatment options are very limited. The aim of this study was to identify the molecular drivers of ICC and search for therapeutic targets.
Yuto Shiode, Takahiro Kodama, Satoshi Shigeno, Kazuhiro Murai, Satoshi Tanaka, Justin Y. Newberg, Jumpei Kondo, Shogo Kobayashi, Ryoko Yamada, Hayato Hikita, Ryotaro Sakamori, Hiroshi Suemizu, Tomohide Tatsumi, Hidetoshi Eguchi, Nancy A. Jenkins, Neal G. Copeland, Tetsuo Takehara   +16 more
wiley   +1 more source

.ALPHA.-Galactosidase of alkalophilic microorganisms. I. Identification and growth characteristics of .ALPHA.-galactosidase-producing microorganisms.

Agricultural and Biological Chemistry, 1976
Two kinds of α-galactosidase-producing microorganisms, strain No. 31–2 and strain No. 7–5, have been isolated from soil and subjected to a determinative study. On the basis of the morphological and physiological characters, the strain No. 31–2 was identified to be belonged to genus Micrococcus and the strain No. 7–5 to genus Bacillus. The former strain,
AKIBA, Teruhiko, HORIKOSHI, Koki
openaire   +2 more sources

La malattia di Anderson-Fabry. Introduzione

Giornale di Clinica Nefrologia e Dialisi, 2017
non ...
Giovanni Duro, Marco Lombardi
doaj   +1 more source

Fabry's disease manifesting as familial angiokeratoma corporis diffusum in an indian family – A rare occurrence!

Indian Journal of Paediatric Dermatology, 2020
Fabry's disease is a rare X-linked dermatosis, resulting from alpha-galactosidase deficiency and presents with both cutaneous (angiokeratoma, acral paresthesia, and hypohidrosis) and extracutaneous manifestations (ocular, cardiac, renal, and neurological)
Ishmeet Kaur, Archana Singal, Deepak Jakhar, Deepika Pandhi   +3 more
doaj   +1 more source

Previously Unidentified Gene Variation Associated with Fabry Disease: The Impact on One Family

Case Reports in Nephrology, 2020
Fabry disease is an X-linked lysosomal storage genetic disorder associated with over 1000 mutations in the alpha-galactosidase-A gene region. We report here a 69-year-old male who underwent a kidney biopsy to evaluate progressive renal failure.
Amaresh R. Vanga, Samantha A. Schrier Vergano, Jolanta Kowalewska, Thomas R. McCune   +3 more
doaj   +1 more source

Cornea Verticillata in classical Fabry disease, first from Sri Lanka: a case report

BMC Pediatrics, 2020
Background Fabry disease is a rare inborn error of metabolism with profound clinical consequences if untreated. It is caused by the deficiency of α galactosidase A enzyme and is the only lysosomal storage disorder with an X linked inheritance ...
Hasani Hewavitharana, Eresha Jasinge, Hiranya Abeysekera, Jithangi Wanigasinghe   +3 more
doaj   +1 more source

Strong increase of leukocyte apha‐galactosidase A activity in two male patients with Fabry disease following oral chaperone therapy

Molecular Genetics & Genomic Medicine, 2019
Background Fabry disease (OMIM 301500) is an X‐linked disorder caused by alpha‐galactosidase A (α‐Gal A) deficiency. The administration of a pharmacologic chaperone (migalastat) in Fabry patients with amenable mutations has been reported to improve or ...
Foudil Lamari, Wladimir Mauhin, Fairouz Koraichi, Walid Khrouf, Celine Bordet, Jonathan London, Olivier Lidove, Philippe Charron   +7 more
doaj   +1 more source

Scientific opinion on the safety and efficacy of AGal-Pro (alpha-galactosidase and endo-1,4-beta-glucanase) as a feed additive for chickens reared for laying and minor poultry species for fattening [PDF]

EFSA Journal, 2013
The additive AGal-Pro, also named as Biogalactosidase BL and AlphaGal BL, is a preparation of alpha-galactosidase (galactosidase) produced by a genetically modified strain of Saccharomyces cerevisiae and of endo-1,4-beta-glucanase (glucanase) produced by
EFSA Panel on Additives and Products or Substances used in Animal Feed (FEEDAP)
doaj   +1 more source

Effects of IGFBP4 deficiency on human preadipocyte proliferation and differentiation through the IGF1R/AKT pathway

FEBS Open Bio, EarlyView.
IGFBP4 knockdown (KD) impairs preadipocyte proliferation and is associated with IGF1R protein downregulation and attenuated AKT phosphorylation. The mechanisms by which IGFBP4 KD influences the IGF1R/AKT signaling pathway involve newly synthesized proteins and lysosomal degradation pathways. Created in BioRender.
Yujia Guo, Sandy Richter, Christoph Bach, Wieland Kiess, Anna Kirstein, Diana Le Duc, Antje Garten   +6 more
wiley   +1 more source

Dysregulated DNA methylation in the pathogenesis of Fabry disease

Molecular Genetics and Metabolism Reports, 2022
Fabry disease is an X-linked lysosomal storage disorder caused by a deficiency of α-galactosidase A and subsequent accumulation of glycosphingolipids with terminal α-D-galactosyl residues.
Jin-Song Shen, Uthra Balaji, Kunitoshi Shigeyasu, Yoshinaga Okugawa, Siamak Jabbarzadeh-Tabrizi, Taniqua S. Day, Erland Arning, John Marshall, Seng H. Cheng, Jinghua Gu, Raphael Schiffmann, Teodoro Bottiglieri, Ajay Goel   +12 more
doaj   +1 more source