Results 31 to 40 of about 900,860 (290)

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

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

Removal of flatulence causing sugars in soymilk [PDF]

, 2009
The enzyme, alpha-galactosidase was extracted from peanuts using various buffers and solvents. The specific activity of soluble preparation of peanut ranged from 0.0083 to 0.0606 U/mg.
Rajan, Anila
core  

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

Cloning and characterization of a chickpea α-galactosidase befitting industrial bioprocess applications

Discover Applied Sciences
Chickpea (Cicer arietinum) contains at least four alpha-galactosidase genes (LOC101512744, LOC101513035, LOC101503593, and LOC101502309). The alpha-galactosidase gene (LOC101513035) was isolated from chickpea, cloned as eGFP fusion in pET 15b-eGFP, and ...
P. M. Vetriselvi, Marcus Samuel, Rex Arunraj   +2 more
doaj   +1 more source

Chronobiology of Cancer: How Aging Fuels Oncogenesis at the Molecular Level

Aging and Cancer, EarlyView.
This graphical abstract illustrates the key biological pathways linking aging with cancer development and progression. In the upper left, cumulative exposure to ultraviolet radiation, toxins, and reactive oxygen species (ROS) causes DNA damage and genomic instability, whereas age‐related decline in repair mechanisms, such as ATM/ATR, BER, and NER ...
Anu Singh, Aroonima Misra, Sufian Zaheer
wiley   +1 more source

Diagnostics of Fabry disease in arrhythmology practice: a case report

Российский кардиологический журнал, 2022
Heart failure in Fabry disease (FD) is unfavorable prognostic manifestation and cause of death. Given that the disease is rare in clinical practice, the low awareness of physicians about this pathology leads to its late diagnosis and the lack of ...
M. A. Dragunova, I. V. Kisteneva, E. N. Pavlyukova, L. P. Nazarenko, S. V. Popov   +4 more
doaj   +1 more source

Hidrólise da lactose e síntese de galactooligossacarídeos utilizando B-galactosidase imobilizada em suportes à base de quitosana [PDF]

, 2014
Tese (doutorado) - Universidade Federal de Santa Catarina, Centro Tecnológico, Programa de Pós-Graduação em Engenharia de Alimentos, Florianópolis, 2014.A ß-galactosidase (E.C 3.2.1.23) é uma das enzimas mais empregadas na indústria de alimentos sendo ...
Klein, Manuela Poletto
core