Results 61 to 70 of about 40,202 (243)

Cardiac Affection in Lysosomal Storage Disorders: Review Article [PDF]

Zagazig University Medical Journal
A class of illnesses known as lysosomal storage disorders is brought on by deficiencies in membrane transporters, lysosomal enzymes, or other proteins important in lysosomal biology.
Wessam Mokhtar, Nariman Omar, Asmaa Mohammed Niazy, AL Shaymaa Ahmed Ali   +3 more
doaj   +1 more source

Innate Immunocompetent hiPSC‐Derived Neurospheroids Capture Early CNS Responses to rAAV

Advanced Science, EarlyView.
Knowledge of human CNS immune responses to AAV‐based gene therapies remains limited due to the lack of immune‐competent human models. Here, a hiPSC‐derived 3D neuroimmune platform integrating neurospheroids and microglia is established using stirred‐tank bioreactors.
Catarina M. Gomes, Gabriela Silva, Mafalda Aleixo, Marta Gomes, Daniel Simão, Stephan J. Holtkamp, Diana D. Lobo, Pradeep Harish, Rosalind Jenkins, Lekh N. Dahal, Rui J. Nobre, Luís de Pereira de Almeida, Mark Trautwein, Paula M. Alves, Catarina Brito   +14 more
wiley   +1 more source

Charting Endocrine Progenitors Across Species and Organs

Advanced Science, EarlyView.
Endocrine progenitors give rise to the hormone‐producing cells of the pancreas and intestine. Using single‐cell multiomics and proteomics, this study compares these progenitors across species, systems, and organs, mapping the conserved and species‐specific gene regulatory networks that guide their formation.
Changying Jing, Michael Sterr, Özüm Sehnaz Caliskan, Lama Saber, Nicole Katarina Rogers, Samuel Ogden, Kei Kozawa, Christos Karampelias, Jessica Jaki, Aimée Bastidas‐Ponce, Falk Janos Farkas, Oliver Czarnecki, Osvaldo Rodrigues Pereira, Perla Cota, Valerie Vandenbempt, Diego Balboa, Anika Böttcher, Natalie Krahmer, Mohammad Lotfollahi, Julie B. Sneddon, Heiko Lickert, Mostafa Bakhti   +21 more
wiley   +1 more source

Ultrasound‐Activatable Piezoelectric Hydrogel Reprograms Mitochondrial Epigenetics for Osteoarthritis Therapy via the mTOR/GATD3A Axis

Advanced Science, EarlyView.
An ultrasound‐activatable piezoelectric hydrogel reprograms chondrocyte mitochondrial epigenetics via the mTOR/GATD3A axis, clearing damaged mitochondria and alleviating osteoarthritis progression in both mouse models and human cartilage explants. ABSTRACT The avascular nature of cartilage hinders drug delivery for osteoarthritis (OA) therapy.
Hui Zheng, Pengfei Yan, Peng Liu, Chang Yan, Mengqi Zhao, Zuyong Wang, Chao Ma, Rongkai Zhang, Xi Cui, Swee Hin Teoh   +9 more
wiley   +1 more source

Golgi defect as a major contributor to lysosomal dysfunction

Frontiers in Cell and Developmental Biology
The Golgi apparatus plays a crucial role in lysosome biogenesis and the delivery of lysosomal enzymes, essential for maintaining cellular homeostasis and ensuring cell survival. Deficiencies in Golgi structure and function can profoundly impact lysosomal
Sarah R. Akaaboune, Yanzhuang Wang
doaj   +1 more source

Lysosomal exocytosis and lipid storage disorders

Journal of Lipid Research, 2014
Lysosomes are acidic compartments in mammalian cells that are primarily responsible for the breakdown of endocytic and autophagic substrates such as membranes, proteins, and lipids into their basic building blocks. Lysosomal storage diseases (LSDs) are a
Mohammad Ali Samie, Haoxing Xu
doaj   +1 more source

A Micropeptide Component of the OGDH Complex Modulates ATP Production in the TCA Cycle

Advanced Science, EarlyView.
This study identified a mitochondrial micropeptide encoded by a non‐canonical open reading frame (alt‐ORF) within the CTSB gene. This micropeptide named APPM (ATP production‐promoting micropeptide) is a novel component of the OGDHc complex in the TCA cycle. APPM localizes to the inner mitochondrial membrane and directly binds to OGDH, the E1 subunit of
Xinqiang Yin, Weiyan Qi, Lifen Lin, Huilin Zheng, Guoxiang Zhao, Quan Chen, Guoqiang Shao, Yifan Wu, Jialiang Hu, Hanmei Xu   +9 more
wiley   +1 more source

Consensus position statement for the diagnosis and treatment of lysosomal storage diseases with neurological manifestations

Българска неврология, 2023
Lysosomal storage diseases involve about 50 rare genetic metabolic diseases engaging  various mutations/pathological variants that cause enzyme deficiency and lysosomal  dysfunction due to accumulation of certain substrates in them: lipids, glycoproteins,
Ivan Milanov, Ivailo Tournev, Veneta Bozhinova   +2 more
doaj  

Lysosomal acid lipase deficiency in a 6-year-old child: case report

Archives of the Balkan Medical Union, 2020
Introduction. Cholesteryl ester storage disease or lysosomal acid lipase deficiency is a rare severe congenital enzyme pathology of lysosomal storage disorders.
Oleksandra SHULHAI, Anna KABAKOVA, Anna-Mariia SHULHAI   +2 more
doaj   +1 more source

A Microenvironment‐Adaptive Scaffold Rejuvenates Peripheral Nerve Regeneration During Aging Via Dual Modulation of Ferroptotic Stimuli in Schwann Cells

Advanced Science, EarlyView.
(i) Aging impairs peripheral nerve regeneration via its dual ferroptosis‐mediated pathologies in senescent schwann cells. (ii) The composite nerve conduit is a symbiosis niche integrating microenvironment‐responsive nanoparticles (Ga‐PTAs) and maxillofacial‐derived mesenchymal stem cells (Mmscs).
Ning Zhan, Lixin Tian, Lianjie Peng, Jingyu Zhang, Lining Lin, Xiaoting Zhang, Yaxian Luo, Zhichao Liu, Xinhua Yao, Mouyuan Sun, Yong He, Mengfei Yu, Huiming Wang   +12 more
wiley   +1 more source