Results 71 to 80 of about 2,496,873 (280)

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

SPSB1 Promotes Subcutaneous Adipose Hyperplasia in Facial Port‐Wine Stains by Controlling HDAC1 Degradation and Stability Through Two Distinct Proteolytic Pathways

Advanced Science, EarlyView.
In PWS‐ASPCs, FOSL1 drives the expression of SPSB1. SPSB1, as part of the ESC complex, further binds to HDAC1 and promotes K29‐linked and K48‐linked polyubiquitination of HDAC1. These modifications facilitate the degradation of HDAC1 through the ALP and UPS pathways, respectively.
Hongrui Chen, Bin Sun, Yajing Qiu, Chen Hua, Xiaoxi Lin, Wei Gao   +5 more
wiley   +1 more source

Inappropriate cathepsin K secretion promotes its enzymatic activation driving heart and valve malformation

JCI Insight, 2020
Although congenital heart defects (CHDs) represent the most common birth defect, a comprehensive understanding of disease etiology remains unknown.
Po-Nien Lu, Trevor Moreland, Courtney J. Christian, Troy C. Lund, Richard A. Steet, Heather Flanagan-Steet   +5 more
doaj   +1 more source

Cardiac device implantation and device usage in Fabry and hypertrophic cardiomyopathy

Orphanet Journal of Rare Diseases, 2022
Background Fabry disease (FD) is a treatable X-linked condition leading to progressive cardiac disease, arrhythmia and premature death. We aimed to increase awareness of the arrhythmogenicity of Fabry cardiomyopathy, by comparing device usage in patients
Ravi Vijapurapu, William Bradlow, Francisco Leyva, James C. Moon, Abbasin Zegard, Nigel Lewis, D. Kotecha, Ana Jovanovic, Derralynn A. Hughes, Peter Woolfson, Richard P. Steeds, Tarekegn Geberhiwot   +11 more
doaj   +1 more source

Human Dental Pulp Stem Cell Secretome Restores Ischemic Stroke–Impaired Motor and Cognitive Functions by Reprogramming Redox and Inflammatory Signaling

Advanced Science, EarlyView.
Human dental pulp stem cell secretome emerges as a cell‐free therapeutic strategy for ischemic stroke by reprogramming redox and inflammatory signaling. hDPSC secretome‐derived antioxidant and immunomodulatory factors suppress the TLR4–NOX–ROS–NF‐κB axis, reduce microglial inflammatory responses and apoptosis, and promote neurogenesis, angiogenesis ...
Kyung‐Joo Seong, Sehoon Park, Sun‐Woong Bae, Daseul Kim, Jin Ho Lee, Won‐Seok Choi, Zee‐Yong Park, Ji‐Yeon Jung, Won‐Jae Kim   +8 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  

Trafficking Deficiency of TMEM175 Variants in Parkinson's Disease Pathogenesis and the Prospects of Precision Medicine

Advanced Science, EarlyView.
This study identifies that the PD‐associated TMEM175‐L156P variant disrupts lysosomal ion channel trafficking by causing aberrant endoplasmic reticulum retention. A “chaperone–agonist” bifunctional small molecule restores TMEM175‐L156P lysosomal localization and channel function, thereby alleviating PD‐relevant cellular phenotypes and highlighting a ...
Ting Luo, Yu He, Shuyao Li, Haoyu Guan, Ruili Cui, Yu Shi, Zhongwen Jiang, Siyu Wang, Xuan Li, Jiyuan Li, Mei Hu, Yupeng Zhou, Beisha Tang, Yanyan Zhang, Zhaobing Gao, Yu Zhou, Zhenhua Liu, Ping Li   +17 more
wiley   +1 more source

Generation and characterization of two iPSC lines derived from subjects with Free Sialic Acid Storage Disorder (FSASD)

Stem Cell Research
Free sialic acid storage disorder (FSASD) is a rare, autosomal recessive, neurodegenerative disorder caused by biallelic mutations in SLC17A5, encoding the lysosomal transmembrane sialic acid exporter, SLC17A5.
Marya S. Sabir, Petcharat Leoyklang, Mary E. Hackbarth, Evgenia Pak, Amalia Dutra, Richard Tait, Laura Pollard, David R. Adams, William A. Gahl, Marjan Huizing, May Christine V. Malicdan   +10 more
doaj   +1 more source

Therapeutic Approaches in Lysosomal Storage Diseases

, 2021
Lysosomal Storage Diseases are multisystemic disorders determined by genetic variants, which affect the proteins involved in lysosomal function and cellular metabolism.
Julián Fernández-Martín, Cristina Melcón-Crespo, Marta Alves-Villar, Saida Ortolano, Beatriz San Millán-Tejado, María Gallardo-Gómez, Carlos Fernández-Pereira, Tania Pérez-Márquez   +7 more
core   +1 more source

A Blood‐Derived Factor Rescues ALS: Platelet Factor 4 Activates OPTN‐Dependent Autophagy to Clear SOD1 Aggregates Independently of PINK1

Advanced Science, EarlyView.
Systemic platelet factor 4 (PF4) is significantly depleted in amyotrophic lateral sclerosis (ALS). Peripheral PF4 replenishment restores central proteostasis by driving OPTN‐dependent, PINK1‐independent selective autophagy in motor neurons. This intervention effectively clears toxic SOD1 aggregates, blunts glial activation, and preserves neuromuscular ...
Qingjian Xie, Yanbo Zhu, Wenhua Jiang, Haobo Xie, Yaojia Li, Mengjie Hu, Kezheng Li, Huan Yu, Yixuan Pan, Chaoyi Jiang, Xueqin Song, Dongsheng Fan, Binbin Deng   +12 more
wiley   +1 more source