Results 91 to 100 of about 4,684 (195)

Supplementary Material for: Molecular Modeling and Phenotypic Description of a Patient with a Novel Exonic Deletion of GALNS with Resultant Morquio Syndrome with Two Successful Pregnancies

, 2022
In this report, we describe phenotypic features of a patient with mucopolysaccharidosis type IVA (Morquio syndrome) harboring a novel exon 1 deletion in GALNS with enzymatic confirmation consistent with Morquio syndrome.
Bruno K.A. (12217136), Ahuja A.S. (12217130), Atwal H. (12217139), Cheema A. (12217133), Selvam P. (12217124), Abbott J. (12217127), Caulfield T. (12217145), Atwal P.S. (12217148), Forghani I. (12217142), Jain A. (6481688)   +9 more
core   +1 more source

Reduction of Charged Glycoconjugates in Tango2 KO Mouse Brain

Proteoglycan Research, Volume 4, Issue 1, January 2026.
ABSTRACT The transport and Golgi organization 2 (TANGO2) gene has been identified to cause a rare recessive genetic disorder known as TANGO2‐deficiency disorder (TDD). TDD is a multi‐systemic disorder that can affect different organs including the brain, heart, and muscles, presenting as recurrent metabolic crises, muscle weakness, and neurological ...
Edward S. X. Moh, Maike Stentenbach, Tim McCubbins, Nicolle H. Packer   +3 more
wiley   +1 more source

Deletion of caveolin‐1 attenuates LPS/GalN‐induced acute liver injury in mice [PDF]

Journal of Cellular and Molecular Medicine, 2018
AbstractAcute hepatic injury caused by inflammatory liver disease is associated with high mortality. This study examined the role of caveolin‐1 (Cav‐1) in lipopolysaccharide (LPS) and D‐galactosamine (GalN)‐induced fulminant hepatic injury in wild type and Cav‐1‐null (Cav‐1−/−) mice.
Tsung‐Huang Tsai, Kabik Tam, Shu‐Fen Chen, Jun‐Yang Liou, Yi‐Chen Tsai, Yen‐Ming Lee, Tai‐Yu Huang, Song‐Kun Shyue   +7 more
openaire   +2 more sources

Modern Advances in Velvet Antler Research: From Identification Methods to Pharmacological Mechanisms

International Journal of Food Science, Volume 2026, Issue 1, 2026.
Velvet antler, a valued traditional medicine of animal origin, contains an abundance of bioactive compounds including amino acids, peptides, proteins, and nucleosides. It exhibits notable health‐promoting properties such as wound repair, antioxidant activity, and metabolic regulation, making it a high‐quality natural ingredient for functional foods and
Maodie Zhang, Xiaopeng Liu, Ning Jiang, Jiajia Song   +3 more
wiley   +1 more source

GALNS mutations of patients diagnosed and selected as reference for the MPS IVA enzymatic assay development.

, 2015
aNot described in HGMD, present in CentoMD [20]bPatients carry two heterozygous mutationscPatient carries three heterozygous mutations/variantGALNS mutations of patients diagnosed and selected as reference for the MPS IVA enzymatic assay development.
Arndt Rolfs (140849), Sabrina Eichler (766351), Anne-Katrin Giese (440558), Gyula Wittmann (766352), Alba Flores Bonet (766353), Claudia Cozma (766350), Guido Johannes Kramp (766354)   +6 more
core   +1 more source

Hepatoprotective Effects of Mangrove Plant Species of the Sundarbans and Their Bioactive Metabolites: A Comprehensive Review With Mechanistic Insights

Journal of Food Biochemistry, Volume 2026, Issue 1, 2026.
The Sundarbans mangrove ecosystem represents a unique ecological niche enriched with diverse medicinal plant species exhibiting significant therapeutic potential. This review summarizes the hepatoprotective phytochemicals derived from mangrove plant species of the Sundarbans and highlights their pharmacological mechanisms.
H. M. Shadid Hossain Snigdha, Md. Mohaiminul Islam, Razina Rouf, Md. Sakib Al Hasan, Md. Torequl Islam, Jamil A. Shilpi, Shaikh Jamal Uddin, Anupama Bose   +7 more
wiley   +1 more source

Advances in Pharmacological Insights of Borago officinalis: A Comprehensive Review

Biological Diversity, Volume 2, Issue 4, Page 193-205, December 2025.
ABSTRACT Recent growth in phytotherapy and product‐based drug development has increased interest in this plant because of its broad pharmacological activity. This review aims to examine the pharmacological activities, mechanisms, and potential applications of Borago officinalis, focusing on its primary bioactive constituents and therapeutic ...
Zahra Sufwan, Javed Akhtar Ansari, Farogh Ahsan   +2 more
wiley   +1 more source

Evaluation of Select Publicly Available in Silico Methods for Predicting Functional Effects of Missense Mutations in the GALNS Gene

, 2014
The ability to sequence patient DNA has led to an explosion in the reports of mutations for a number of diseases. Frequently, published reports include in silico predictions of the probability that the mutations are disease-associated. The question asked
Davidson, Kathryn
core   +1 more source

Evaluation of the CRISPR/Cas9 system as genome editing platform for the Mucopolysaccharidosis IV A using a strategy for induction of higher homologous recombination frequency

Universitas Scientiarum
Mucopolysaccharidosis IVA (MPS IVA) is a lysosomal storage disease caused by mutations in the gene encoding for the hydrolase N-acetylgalactose-6-sulfate sulfatase (GALNS). GALNS deficiency leads to a progressive buildup of partially degraded chondroitin-
Diego Alejandro Suarez, Andrés Felipe Leal, Carlos Javier Alméciga Díaz   +2 more
doaj   +1 more source

Depth‐dependent effects of short‐term whole‐soil warming on microbial necromass and plant lignin

Functional Ecology, Volume 39, Issue 11, Page 3269-3283, November 2025.
Read the free Plain Language Summary for this article on the Journal blog. Abstract The changes in the origins and storage of soil organic carbon (SOC) under a warming climate are closely related to SOC decomposition and the feedbacks to climate change.
Peng Tian, Xuechao Zhao, Thomas W. Crowther, Yakov Kuzyakov, Biao Zhu, Qingkui Wang   +5 more
wiley   +1 more source