Results 31 to 40 of about 677,727 (291)

A Novel Mutation in The GLA Gene Leading to Fabry Disease - A Case Report from Islamabad, Pakistan

Life and Science
Fabry disease (OMIM #301500) is a rare X-linked lysosomal storage disease. Generally, lysosomal storage disease is identified by inappropriate lipid storage in lysosomes due to specific enzyme deficiencies.
Ayesha Ali Malick, Muhammad Jawad Hassan, Arsalan Ahmad   +2 more
doaj   +1 more source

Genetically Modified Cell Transplantation Through Macroencapsulated Spheroids with Scaffolds to Treat Fabry Disease

Cell Transplantation, 2021
Cell transplantation is expected to be another strategy to treat lysosomal diseases, having several advantages compared to enzyme replacement therapy, such as continuous enzyme secretion and one-time treatment to cure diseases.
Daisuke Kami, Yosuke Suzuki, Masashi Yamanami, Takahiro Tsukimura, Tadayasu Togawa, Hitoshi Sakuraba, Satoshi Gojo   +6 more
doaj   +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

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

β-galactosidase-specific band shifts were not observed in monocots and basal angiosperms samples.

, 2023
(A) Tomato fruits produced GBGM oligo after AnGH5 digestion, which migrated to GAGM after the following β-galactosidase treatment. M: marker lane (standard oligo saccharides).
Alberto Echevarría-Poza (17692296), Yusuke Ohba (232743), Hiroaki Iwai (479540), Li Yu (81651), Konan Ishida (17692290), Louis F. L. Wilson (17692293), Yoshihisa Yoshimi (747434), Paul Dupree (542523)   +7 more
core   +1 more source

Purificação e caracterização de alfa-galactosidases de sementes de Platymiscium pubescens Micheli Purification and characterization of alpha-galactosidases from Platymiscium pubescens Micheli seeds

Revista Árvore, 2005
Este trabalho objetivou foi determinar a composição bioquímica de sementes de espécies florestais e caracterizar a enzima alfa-galactosidase de sementes germinadas de Platymiscium pubescens. Os maiores teores de lipídios foram determinados em sementes de
Giordani de Oliveira, Valéria Monteze Guimarães, Eduardo Euclydes de Lima e Borges, Lilian da Silva Fialho, Maria Goreti de Almeida e Oliveira, Sebastião Tavares de Rezende   +5 more
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

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

Glycosidases of ehrlich ascites tumor cells and ascitic fluid--Purification and substrate specificity of [alpha]-N-Acetylgalactosaminidase and [alpha]-galactosidase: Comparison with coffee bean [alpha]-galactosidase

, 1990
Ehrlich ascites tumor cells and ascitic fluid were assayed for glycosidase activity. [alpha]-Galactosidase and [beta]-galactosidase, [alpha]- and [beta]-mannosidase, [alpha]-N-acetylgalactosaminidase, and [beta]-N-acetylglucosaminidase activities were ...
Goldstein, Irwin J., Eckhardt, Allen E., Yagi, Fumio   +2 more
core   +1 more source

Alpha-1 antitrypsin deficiency gut microbiome

, 2020
This dataset contains 16S rRNA Illumina MiSeq sequenced samples used in our gut microbiome study in individuals with alpha-1 antitrypsin deficiency (AATD) and controls (non-AATD)
Kirst, ME (University of Florida)
core   +1 more source