Results 81 to 90 of about 2,885,518 (281)

Dermatological Characteristics in a Cohort of Patients with Mucopolysaccharidosis from Southwestern Colombia [PDF]

Journal of Inborn Errors of Metabolism and Screening
Background: Mucopolysaccharidoses (MPS) are rare lysosomal storage disorders characterized by glycosaminoglycan accumulation and multisystem involvement, including underreported dermatological features.
Johan Conquett Huertas, Winnie Celorio, Jose Maria Satizabal, Lina Moreno Giraldo   +3 more
doaj   +2 more sources

A non-conserved miRNA regulates lysosomal function and impacts on a human lysosomal storage disorder

, 2014
Sulfatases are key enzymatic regulators of sulfate homeostasis with several biological functions including degradation of glycosaminoglycans (GAGs) and other macromolecules in lysosomes.
Di Malta, Chiara, Ballabio, Andrea, Lund, Anders H., Wen, Jiayu, Eskelinen, Eeva-Liisa, Frankel, Lisa B   +5 more
core   +2 more sources

Macrophage RSAD2 Couples mtDNA Synthesis With a Self‐Amplifying Inflammatory Circuit to Orchestrate Tissue Repair

Advanced Science, EarlyView.
Macrophage RSAD2 dually regulates CMPK2—the rate‐limiting enzyme for mitochondrial DNA synthesis—by suppressing its ubiquitination and promoting its phosphorylation via Csnk2a2 recruitment. This amplifies mtDNA production, which simultaneously activates a cGAS‐STING‐IRF3‐RSAD2 feedforward loop and the NLRP3 inflammasome, driving a self‐sustaining ...
Haomiao Yuan, Shukui Du, Chunfei Li, Xinjie Li, Shuyang Mu, Anran Qu, Hengxu Yan, Chongchong Xu, Jinnong Yang, Jingkai Sun, Yijun Wang, Jiayang Xiao, Fuyuan Zhang, Linlin Wang, Tiegang Li, Rui Zhao, Dawei Guan   +16 more
wiley   +1 more source

Thematic review series: Lipid Posttranslational Modifications. Lysosomal metabolism of lipid-modified proteins

Journal of Lipid Research, 2006
Much is now understood concerning the synthesis of prenylated and palmitoylated proteins, but what is known of their metabolic fate? This review details metabolic pathways for the lysosomal degradation of S-fatty acylated and prenylated proteins. Central
Jui-Yun Lu, Sandra L. Hofmann
doaj   +1 more source

A new lysosomal storage disorder resembling Morquio syndrome in sibs

, 2012
International audienceWe report two male sibs, born from unrelated French Caribbean parents, presenting with an unclassifiable storage disorder. Pregnancy and delivery were uneventful. Stunted growth was noted during the first year of life. Both children
Quoc, Emmanuel Bui, El Ghouzzi, Vincent, Gérard, Marion, Ilharreborde, Brice, Fenneteau, Odile, Passemard, Sandrine, Tabet, Anne-Claude, Froissart, Roseline, Mazda, Keyvan, Verloes, Alain, Perrin, Laurence, Ghoumid, Jamal, Capri, Yline, Caillaud, Catherine, Lebon, Sophie   +14 more
core   +1 more source

Impaired Chaperone‐Mediated Autophagy Accelerates Intervertebral Disc Degeneration by Inducing MIDN Accumulation to Target TSC2 for Proteasomal Degradation

Advanced Science, EarlyView.
This graphical abstract illustrates how chaperone‐mediated autophagy (CMA) regulates intervertebral disc degeneration (IDD). Under normal homeostasis (B), CMA degrades cytoplasmic Midnolin (MIDN) to maintain proteostasis. Under inflammatory stress (A), impaired CMA leads to cytoplasmic MIDN accumulation.
Xianglong Chen, Haiyang Gao, Wang Wu, Pengzhi Shi, Yuhang Chen, Anran Zhang, Zhangrong Cheng, Wenbo Wu, Zimu Yu, Yukun Zhang   +9 more
wiley   +1 more source

A European Consortium for Lysosomal Storage Diseases

, 2008
Lysosomes are membrane-enclosed compartments, filled with hydrolytic enzymes that are used for the degradation of macromolecules. Proteins and other substrates are delivered to the lysosomes by various pathways including endocytosis, and autophagy, a ...
ANDRIA, GENEROSO
core  

Lysosomal Storage Disease (LSDs) [PDF]

, 2015
How to Cite this Article: Ghofrani M. Lysosomal Storage Disease (LSDs). Iran J Child Neurol.
GHOFRANI, Mohammad
core   +1 more source

Potential Treatment of Lysosomal Storage Disease through Modulation of the Mitochondrial—Lysosomal Axis

, 2021
Lysosomal storage disease (LSD) is an inherited metabolic disorder caused by enzyme deficiency in lysosomes. Some treatments for LSD can slow progression, but there are no effective treatments to restore the pathological phenotype to normal levels ...
Sang Chul Park, Myeong Uk Kuk, Joon Tae Park, Yun Haeng Lee, Jae Won Kim, Su Young Hwang   +5 more
core   +1 more source

OAF Blocks SIAH1‐Mediated Degradation of SCPX, a Therapeutic Strategy for MASLD

Advanced Science, EarlyView.
This study shows OAF directly binds to SCPX and inhibits its interaction with the E3 ligase SIAH1, thereby protecting SCPX from ubiquitin‐dependent degradation and stabilizing its levels. This OAF‐SCPX axis represents a novel pathway in lipid homeostasis, highlighting OAF as a promising therapeutic candidate for MASLD.
Zongxi Li, Jingyue Song, Kaili Ma, Shunan Tang, Shuqian Wang, Wenya Ji, Chen Lu, Ting Zhang, Huaping Zheng, Xiaowei Zheng, Shanshan Lai, Cheng Deng   +11 more
wiley   +1 more source