Results 91 to 100 of about 123,112 (260)

Current and emerging management options for patients with Morquio A syndrome

Therapeutics and Clinical Risk Management, 2013
Mohamed F Algahim, G Hossein AlmassiDivision of Cardiothoracic Surgery, Medical College of Wisconsin, Milwaukee, WI, USAAbstract: Morquio A syndrome is a lysosomal storage disease associated with mucopolysaccharidosis. It is caused by a deficiency of the
Algahim MF, Almassi GH
doaj  

Gaucher disease mouse models: point mutations at the acid β-glucosidase locus combined with low-level prosaposin expression lead to disease variants

Journal of Lipid Research, 2005
Gaucher disease is a common lysosomal storage disease caused by a defect of acid β-glucosidase (GCase). The optimal in vitro hydrolase activity of GCase requires saposin C, an activator protein that derives from a precursor, prosaposin.
Ying Sun, Brian Quinn, David P. Witte, Gregory A. Grabowski   +3 more
doaj   +1 more source

Nanoscale Mapping of the Subcellular Glycosylation Landscape

Advanced Science, EarlyView.
Using multiplexed super‐resolution imaging with fluorophore‐labeled lectins, this study reports intracellular glycosylation at the nanoscale across organelles and synaptic specializations. Extending glycan analysis beyond the cell surface, Glyco‐STORM reveals distinct glycosylation nanodomains in the ER, Golgi, lysosomes, and synaptic sites.
Helene Gregoria Schroeter, Steffen Sass, Mike Heilemann, Thomas Kuner, Maja Klevanski   +4 more
wiley   +1 more source

Analysis of the Effect of Demographic Variables on Lysosomal Enzyme Activities in the Missouri Newborn Screening Program

International Journal of Neonatal Screening
Newborn screening laboratories are increasingly adding lysosomal storage disorders (LSDs), such as Mucopolysaccharidosis I (MPS I) and Pompe disease, to their screening panels. Without newborn screening, LSDs are frequently diagnosed only after the onset
Lacey Vermette, Jon Washburn, Tracy Klug
doaj   +1 more source

FGF9–FGFR2 Signaling via Osteocytes‐Preosteoblasts Crosstalks to Mediate Mechanotransduction‐Driven Intramembranous Osteogenesis in the Underdeveloped Maxilla

Advanced Science, EarlyView.
This study identifies osteocyte‐derived FGF9 as a mechanosensitive factor that impairs osteogenesis in the underdeveloped maxilla by inducing FGFR2 nuclear translocation in preosteoblasts. Mechanical stimulation reduces FGF9 secretion, relieving its inhibitory effect. These findings reveal a novel osteocyte–preosteoblast FGF9–FGFR2 axis in craniofacial
Yiwen Zhou, Lili Chen, Miaomiao Han, Peixiang Zhu, Yanyi Wang, Xuanxuan Yu, Tingyu Reng, Huijuan Wang, Baochao Li, Caixia Zhang, Ziwei Huang, Shuang Lin, Guoyun Wang, Jie Ge, Baosheng Guo, Huang Li   +15 more
wiley   +1 more source

A systematic review of the economic evaluations of Enzyme Replacement Therapy in Lysosomal Storage Diseases [PDF]

, 2022
Eleni Ioanna Katsigianni, Panagiotis Petrou   +1 more
openalex   +1 more source

Mitochondria-associated ER membranes (MAMs) and lysosomal storage diseases

Cell Death and Disease, 2018
Lysosomal storage diseases (LSDs) comprise a large group of disorders of catabolism, mostly due to deficiency of a single glycan-cleaving hydrolase. The consequent endo-lysosomal accumulation of undigested or partially digested substrates in cells of ...
Ida Annunziata, R. Sano, A. d’Azzo
semanticscholar   +1 more source

Acetylation of the Mitochondrial Chaperone GRP75 Governs ER‐Mitochondrial Calcium Homeostasis and Hepatocyte Insulin Resistance

Advanced Science, EarlyView.
Overnutrition exacerbates insulin resistance (IR) and is linked to excessive mitochondrial protein acetylation. However, it remains unclear whether and how mitochondrial protein acetylation influences IR. GCN5L1‐dependent downregulation of GRP75 acetylation at K567/612 consequently enhances ER‐mitochondrial calcium flux and induces ER stress.
Danni Wang, Jiaqi Zhang, Xinyu Yang, Qiqi Zhang, Xiuya Hu, Xin Lu, Hanni Li, Xue Bai, Kai Zhang, Michael N. Sack, Yongsheng Chang, Yingmei Wang, Lingdi Wang, Lu Zhu   +13 more
wiley   +1 more source

ERβ/circAHNAK Axis Inhibits USP10–FMR1 Deubiquitination to Prevent m⁶A‐Mediated ADAM17 Decay and Promote Angiogenesis in Clear Cell Renal Cell Carcinoma

Advanced Science, EarlyView.
In clear cell renal cell carcinoma, estrogen receptor β (ERβ) upregulates circAHNAK, which competitively binds USP10 to prevent FMR1 deubiquitination, leading to FMR1 degradation. Loss of FMR1 hinders m⁶A‐dependent decay of ADAM17 mRNA, resulting in ADAM17 accumulation in tumor exosomes and enhanced angiogenesis.
Chao Xu, Sujing Zhang, Yuepeng Liu, Jingwei Lv, Yilong Cao, Yao Chen, Hao Sun, Bowei Zhang, Shengtao Dai, Jiehan Li, Xiaoling Li, Bei Shi, Qingyun Sun, Meng Zhu, Junfei Gu   +14 more
wiley   +1 more source

A mouse model for fucosidosis recapitulates storage pathology and neurological features of the milder form of the human disease

Disease Models & Mechanisms, 2016
Fucosidosis is a rare lysosomal storage disorder caused by the inherited deficiency of the lysosomal hydrolase α-L-fucosidase, which leads to an impaired degradation of fucosylated glycoconjugates.
Heike Wolf, Markus Damme, Stijn Stroobants, Rudi D'Hooge, Hans Christian Beck, Irm Hermans-Borgmeyer, Renate Lüllmann-Rauch, Thomas Dierks, Torben Lübke   +8 more
doaj   +1 more source