Results 81 to 90 of about 42,118 (292)

Single‐Mitochondrion ATP Profiling Directs Discovery of Targetable OXPHOS Dependency in Cancers

Advanced Science, EarlyView.
MitoATP‐nFCM integrates nano‐flow cytometry with fluorogenic probes (ATP/membrane potential) and antibodies to quantify mitochondrial metabolites and protein expression at single‐organelle resolution, exposing oxidative phosphorylation (OXPHOS)‐driven metabolic rewiring in cancers.
Xu Xiao, Cheng Lu, Hao Chen, Jing Zhou, Yunyun Hu, Haonan Di, Guoqiang Su, Xiaomei Yan   +7 more
wiley   +1 more source

Shortened primary cilium length and dysregulated Sonic hedgehog signaling in Niemann-Pick C1 disease [PDF]

, 2017
The Niemann-Pick type C1 (NPC1) disease is a neurodegenerative lysosomal storage disorder due to mutations in the NPC1 gene, encoding a transmembrane protein related to the Sonic hedgehog receptor, Patched, and involved in intracellular trafficking of ...
Canterini, Sonia, Dardis, Andrea, DE STEFANO, Maria Egle, Dragotto, Jessica, Erickson, Robert P., Fiorenza, Maria Teresa, Mangia, Franco, Zampieri, Stefania   +7 more
core   +1 more source

APOE‐stratified Proteomic and Metabolomic Analysis Reveals Mitochondrial Dysfunction Inflammation and Lipid Dysregulation in Alzheimer's Disease

Advanced Science, EarlyView.
A large‐scale multiomic dataset (proteomic and metabolomic) comprising 3,060 plasma samples were analyzed to identify proteins, metabolites, pathways, and protein‐associated drugs linked to Alzheimer’s Disease (AD) independently of apolipoprotein E (APOE). AD was associated with a distinct molecular signature that captures.
Fuhai Li, Yike Chen, Daniel Western, Muhammad Ali, Menghan Liu, Katherine Gong, Ying Xu, Joseph Lowery, David M. Holtzman, Chloe Robins, John D. Eicher, Yen‐Ning Huang, ShiWei Liu, Tamina Park, Andrew J. Saykin, Kwangsik Nho, Mahdi Moqri, Richard C. Mohs, Amelia Farinas, Patricia Moran‐Losada, Hamilton Se‐Hwee Oh, Tony Wyss‐Coray, Carlos Cruchaga   +22 more
wiley   +1 more source

Biochemical and clinical response after umbilical cord blood transplant in a boy with early childhood-onset beta-mannosidosis. [PDF]

, 2019
BACKGROUND: Deficiency in the enzyme β-mannosidase was described over three decades ago. Although rare in occurrence, the presentation of childhood-onset β-mannosidase deficiency consists of hypotonia in the newborn period followed by global development ...
Eisengart, Julie B., Lund, Troy C., Miller, Weston P., Orchard, Paul J., Patterson, Marc C., Pollard, Laura, Renaud, Deborah L., Simmons, Katrina, Wenger, David A.   +8 more
core   +1 more source

Engineered GM1 Intersects Between Mitochondrial and Synaptic Pathways to Ameliorate ALS Pathology

Advanced Science, EarlyView.
Amyotrophic Lateral Sclerosis (ALS) is a fatal neurodegenerative disease driven by genetic and molecular disruptions affecting energy balance, protein homeostasis, and stress responses in nerve cells. Studies using human and rodent models identified convergent defects in mitochondria and synaptic function.
Federica Pilotto, Tristan Dellazizzo Toth, Silvano Bond, Alexander Schmitz, Rim Diab, Sara Y. Ngo Tenlep, Brian Mooney, Silvia Erni, Martina Schobesberger, Olivier Scheidegger, Camille Peitsch, Smita Saxena   +11 more
wiley   +1 more source

Cholesterol Ester Storage Disease in Two Field Spaniels With Lysosomal Acid Lipase Deficiency

Journal of Veterinary Internal Medicine
Cholesterol ester storage disease (CESD) is a rare genetic lysosomal storage disorder resulting from lower lysosomal acid lipase (LAL) activity. LAL is an essential enzyme required in intracellular lipid metabolism, and deficiency results in disability ...
Pernilla Syrjä, Mathilda M. H. Ylenius, Matilda Kråkström, Alex M. Dickens, Elina Rautala, Anna Huupponen, Anders Eriksson, Sanna J. Viitanen   +7 more
doaj   +1 more source

Gene therapy in Anderson-Fabry disease. State of the art and future perspectives

Cardiogenetics, 2020
Anderson-Fabry disease (AFD) is an X-linked lysosomal storage disorder caused by a deficiency of the lysosomal enzyme, agalactosidase A. The inadequate enzymatic activity leads to systemic storage of glycosphingolipids, mostly globotriaosylceramide, in ...
Giorgio Spiniello, Federica Verrillo, Riccardo Ricciolino, Dario Prozzo, Andrea Tuccillo, Martina Caiazza, Marta Rubino   +6 more
doaj   +1 more source

Treatment of lysosomal storage disorders

BMJ, 2003
Increased awareness and diagnosis are important as treatment is now feasible The lysosomal storage disorders have hitherto justifiably been consigned to the small print sections of textbooks of biochemistry and internal medicine and optional modules of the undergraduate medical curriculum.
Atul B, Mehta, Susan, Lewis, Christine, Laverey   +2 more
openaire   +3 more sources

Ufmylation‐Deficient DDRGK1 Ameliorates Obesity by Inhibiting FASN‐Mediated Adipocyte Lipogenesis

Advanced Science, EarlyView.
DDRGK1 regulates de novo lipogenesis via stabilization of fatty acid synthase (FASN). DDRGK1‐mediated UFMylation of FASN prevents its ubiquitin–proteasomal degradation. Reduced DDRGK1 expression or mutation at the key UFMylation site enhances FASN degradation and suppresses fatty acid synthesis (FAS), resulting in smaller adipocytes and improved ...
Yin Li, Tangjun Zhou, Xiao Yang, Kewei Rong, Xiankun Cao, Lei Shi, Xin Wang, Hongjin Wan, Lei Cui, Kexin Liu, Tong Xing, Hang Zhang, Chen Zhao, Tingxian Guo, Peixiang Ma, Jie Zhao, An Qin   +16 more
wiley   +1 more source

Decreased bone formation and increased osteoclastogenesis cause bone loss in mucolipidosis II

EMBO Molecular Medicine, 2013
Mucolipidosis type II (MLII) is a severe multi‐systemic genetic disorder caused by missorting of lysosomal proteins and the subsequent lysosomal storage of undegraded macromolecules.
Katrin Kollmann, Jan Malte Pestka, Sonja Christin Kühn, Elisabeth Schöne, Michaela Schweizer, Kathrin Karkmann, Takanobu Otomo, Philip Catala‐Lehnen, Antonio Virgilio Failla, Robert Percy Marshall, Matthias Krause, Rene Santer, Michael Amling, Thomas Braulke, Thorsten Schinke   +14 more
doaj   +1 more source