Results 71 to 80 of about 4,684 (195)

Importance of Long-Term Follow-Up in the Prognosis of Mucopolysaccharidosis IV-A: A Case Report from Southwestern of Colombia [PDF]

Journal of Inborn Errors of Metabolism and Screening
Mucopolysaccharidosis IV-A (MPS IV-A) is an autosomal recessive genetic disorder caused by a deficiency in the enzyme N-acetylgalactosamine-6-sulfatase, leading to the accumulation of chondroitin-6-sulfate (C6S) and keratan sulfate (KS).
Mariana Ardila Marín, Carlos Arturo Caicedo Toro, Jeyson Steven Rojas Banguero, José María Satizabal Soto, Daniela Arturo Terranova   +4 more
doaj   +1 more source

Aspartame Increases the Risk of Pancreatic Ductal Adenocarcinoma

eFood, Volume 7, Issue 3, June 2026.
Aspartame (APM) is a widely used artificial sweetener associated with various health concerns, including potential links to diabetes, cardiovascular diseases, and an increased risk of cancer. A comprehensive approach incorporating data mining, machine learning, network toxicology, molecular docking, molecular dynamics simulations, and clinical sample ...
Jumin Xie, Wei Fang, Zean Song, Zhang Yu, Ying Zhu, Shaoping Liu   +5 more
wiley   +1 more source

Enteromorpha prolifera Polysaccharide Alleviates Type 2 Diabetes via the Gut Microbiota–Liver Axis to Modulate Cholesterol Metabolism

Food Science &Nutrition, Volume 14, Issue 6, June 2026.
Enteromorpha prolifera polysaccharides may help restore lipid metabolism homeostasis by gently remodeling the gut microbiota to enrich beneficial bacteria and SCFAs, which in turn appears to modulate hepatic functions through the portal vein by downregulating cholesterol synthesis and promoting its metabolism. This coordinated process potentially leads
Liuying Zhu, Xusheng Wen, Wenrong Zhu, Xueqian Hu, Yanqun Xu, Xin Peng   +5 more
wiley   +1 more source

Autophagy and ER stress in LPS/GalN-induced acute liver injury

Molecular Medicine Reports, 2017
Numerous mechanisms and factors have been implicated in liver damage; however, the involvement of autophagy and endoplasmic reticulum (ER) stress during early‑stage liver injury remains to be fully elucidated. The present study was conducted to determine the expression of autophagy and ER‑stress‑associated proteins in hepatic tissues following injury ...
Ting, Shi, Weifang, Song, Ruiling, Xu
openaire   +3 more sources

Evaluación experimental de la proteína endógena YdeM como activador de la enzima GALNS en Escherichia coli

, 2020
La enfermedad Mucopolisacaridosis IV A (Morquio A) es causada por la deficiencia de la enzima N-acetilgalactosamina-6-sulfatasa (GALNS) en los seres humanos. Cuando se presenta produce anormalidades, como enanismo.
Ramírez Ferrer, Pablo
core  

The mouse N-acetylgalactosamine-6-sulfate sulfatase (Galns) gene: cDNA isolation, genomic characterization, chromosomal assignment and analysis of the 5′-flanking region

, 2000
Deficiency of lysosomal enzyme N-acetylgalactosamine-6-sulfate sulfatase (GALNS) leads to mucopolysaccharidosis IV A (MPS IV A), for which there is no definitive treatment so far. Although a number of mutations of the GALNS gene of MPS IV A patients have
Isogai, Koji, Gilbert, Debra J., Orii, Tadao, Orii, Kenji E., Yamagishi, Atsushi, Kondo, Naomi, Kato, Zen-Ichiro, Copeland, Neal G., Fukuda, Seiji, Yamada, Naoto, Jenkins, Nancy A., Sukegawa, Kazuko, Montaño, Adriana Maria, Tomatsu, Shunji   +13 more
core   +1 more source

Clinical, biochemical and genetic profiles of patients with mucopolysaccharidosis type IVA (Morquio A syndrome) in Malaysia: the first national natural history cohort study

Orphanet Journal of Rare Diseases, 2019
Background Mucopolysaccharidosis IVA (MPS IVA) is an autosomal recessive lysosomal storage disease due to N-acetylgalactosamine-6-sulfatase (GALNS) deficiency.
Huey Yin Leong, Nor Azimah Abdul Azize, Hui Bein Chew, Wee Teik Keng, Meow Keong Thong, Mohd Khairul Nizam Mohd Khalid, Liang Choo Hung, Norzila Mohamed Zainudin, Azura Ramlee, Muzhirah Aisha Md Haniffa, Yusnita Yakob, Lock Hock Ngu   +11 more
doaj   +1 more source

Depth‐dependent mechanisms regulate accumulation of plant‐ and microbial‐derived residues under long‐term nitrogen addition in a semiarid grassland

Functional Ecology, Volume 40, Issue 6, Page 1790-1808, June 2026.
Read the free Plain Language Summary for this article on the Journal blog. Abstract Plant‐ and microbial‐derived residues constitute the primary sources of soil organic carbon (SOC) in grassland ecosystems. However, their differential responses to chronic nitrogen (N) enrichment and the depth‐dependent mechanisms governing their accumulation remain ...
Xiaobo Yuan, Shize Yao, Guiyao Zhou, Adam Frew, Peter Dietrich, Yuan Li, Ying Wang, Tian Ma, Ning Chen, Yaodan Zhang, Jingrun Xu, Shujuan Wu, Mengfei Zhang, Yaodong Li, Baoming Du, Peijing Chang, Tianhu Han, Decao Niu, Hua Fu, Zengru Wang   +19 more
wiley   +1 more source

The GALNS p.P77R variant is a probable Gujarati-Indian founder mutation causing Mucopolysaccharidosis IVA syndrome

BMC Genomics, 2022
Background Mucopolysaccharidosis IVA (Morquio syndrome A, MPS IVA) is an autosomal recessive lysosomal storage disorder caused due to biallelic variants in the N-acetylgalactoseamine-6-sulfate sulfatase (GALNS) gene.
Harsh Sheth, Premal Naik, Maulin Shah, Riddhi Bhavsar, Aadhira Nair, Frenny Sheth, Jayesh Sheth   +6 more
doaj   +1 more source

Long‐term warming drives mineral‐associated organic carbon accumulation on the Tibetan Plateau

Functional Ecology, Volume 40, Issue 6, Page 1809-1821, June 2026.
Read the free Plain Language Summary for this article on the Journal blog. Abstract Global warming affects both plant growth and soil microbial decomposition, creating uncertainty for the storage and persistence of soil organic carbon (SOC) stock. Limited decomposition rates often characterise cold alpine ecosystems.
Siyi Sun, Jiacong Zhou, Carsten W. Mueller, Manuel Delgado‐Baquerizo, Yixuan Zhang, Kees Jan van Groenigen, Andrew Nottingham, Wolfram Buss, Xin Chen, Sergio Velasco Ayuso, Jeppe Aagaard Kristensen, Ying Ma, Shuo Liu, Fabián Scholz, Wolfgang Wanek, Jørgen Eivind Olesen, Junji Cao, Ji Chen   +17 more
wiley   +1 more source