Results 101 to 110 of about 507,433 (303)

Generation of an induced pluripotent stem cell (iPSC) line (INNDSUi009-A) from a patient with amyotrophic lateral sclerosis due to SOD1 mutation

Stem Cell Research
Amyotrophic lateral sclerosis (ALS) is a fatal neurological disorder characterized by progressive degeneration of nerve cells in the spinal cord and brain.
Bo Li, Haoran Mu, Didi Shan, Yitong Yang, Yingxin Wang, Jianing Li, Hongxu Wang, Xiaohan Sun, Xinbo Ji, Zexin Zhan, Yichang Jiao, Yao Tang, Bo Kong, Bo Gao, Yu Wang, Ping Sun, Fuchen Liu   +16 more
doaj   +1 more source

Fatigue and exercise intolerance in mitochondrial diseases. Literature revision and experience of the Italian Network of mitochondrial diseases

, 2012
Fatigue and exercise intolerance are common symptoms of mitochondrial diseases, but difficult to be clinically assessed. New methods to quantify these rather common complaints are strongly needed in the clinical practice.
Servidei, Serenella, SCARPELLI, Mauro, Angelini C, TOSCANO, ANNA, G. Uziel, Valentino, M. L., Comi G. P, Toscano, A., S. Servidei, C. Minetti, Minetti, C., Moroni, I., Mongini T, Siciliano G, E. Bertini, Bertini E, Bertini, E., Comi, G.P., ANGELINI, CRISTINA, T. Mongini, Santorelli, F. M., Zeviani M, Tonin, P., Comi GP, Servidei S, Spinazzi, M., Mancuso, M., M. Zeviani, G. Siciliano, M. Moggio, CARELLI, VALERIO, Toscano A, SICILIANO, GABRIELE, G.P. Comi, Zeviani, M., Angelini, C., Vercelli, L., Uziel G, V. Carelli, FILOSTO, Massimiliano, Siciliano G., Pegoraro, E., Nation wide Italian Collaborative Network of Mitochondrial Diseases, Moggio M, Lamperti, C., Mancuso M, Siciliano, G., Musumeci, O., Orsucci, D., M. Mancuso, Carelli, V., Martinelli, D., MANCUSO, MICHELANGELO, Collaborators: Bruno, C., Sciacco, M., Moggio, M., Comi, G. P., Minetti C, Uziel, G., Carelli V, Mongini, T., Servidei, S., TONIN, PAOLA, MINETTI, CARLO, Tonin P, P. Tonin   +65 more
core   +1 more source

UiO‐66 metal–organic frameworks in biomedicine: From structural tunability to bioimaging, photodiagnostics, and photodynamic cancer therapy

FEBS Open Bio, EarlyView.
UiO‐66(Zr) metal–organic frameworks are chemically stable, biocompatible, and highly tunable nanomaterials. Their modular structure enables controlled drug delivery, multimodal bioimaging, and light‐activated photodynamic therapy, supporting integrated diagnostic and therapeutic (theranostic) applications in cancer and biomedical research.
Veronika Huntošová, Grigorii Rakhalskii, Miroslav Almáši   +2 more
wiley   +1 more source

Neurocognitive characterization and academic impact in pediatric patients belonging to the national registry of GA-1

Orphanet Journal of Rare Diseases
Background Glutaric Aciduria Type 1 (GA-1) is a rare metabolic disorder characterized by a deficiency in glutaryl-coenzyme A dehydrogenase (GDH), leading to the accumulation of neurotoxic compounds that affect neurodevelopment.
Zamora-Crespo Berta, Moreno-Ramos Zaida, Martínez de Aragón Ana, Núñez-Enamorado Noemí, Martin-Bejarano Manuela, Villaluenga Raquel, Barrio Delia, Bellusci Marcello, Martín-Hernández Elena, Quijada-Fraile Pilar   +9 more
doaj   +1 more source

Establishment of an induced pluripotent stem cell (iPSC) line (INNDSUi011-A) from a patient with autosomal dominant spastic paraplegia 9A due to ALDH18A1 mutation

Stem Cell Research
We used a non-integrated reprogramming approach to establish a human induced pluripotent stem cell (hiPSC) line (INNDSUi011-A) from the skin fibroblasts of a 38-year-old female individual with autosomal dominant spastic paraplegia 9A due to ALDH18A1 ...
Didi Shan, Hongxu Wang, Jianing Li, Yu Wang, Fuchen Liu   +4 more
doaj   +1 more source

Mitochondrial Cytochrome c Oxidase Assembly in Health and Human Diseases

, 2012
Deficiencies in the mitochondrial cytochrome c oxidase (COX) or complex IV, the last enzyme of the mitochondrial respiratory chain, are a frequent cause of mitochondrial diseases in human.
Flavia Fontanesi, Antoni Barrientos, Barrientos, Antoni, Fontanesi, Flavia   +3 more
core   +1 more source

Gene set of nuclear-encoded mitochondrial regulators is enriched for common inherited variation in obesity [PDF]

, 2013
There are hints of an altered mitochondrial function in obesity. Nuclear-encoded genes are relevant for mitochondrial function (3 gene sets of known relevant pathways: (1) 16 nuclear regulators of mitochondrial genes, (2) 91 genes for oxidative ...
Wichmann, Heinz-Erich, Martin Klingenspor, Knoll, Nadja, André Scherag, Jarick Ivonne, Hebebrand, J., Anna-Lena Volckmar, Gieger, C., Christian Gieger, Anna-Lena Volckmar (280948), Nadja Knoll (280947), Knoll, N., Christian Gieger (87555), Ivonne Jarick, Hebebrand, Johannes, Klingenspor Martin, Gieger Christian, Grallert, Harald, Wichmann, H.-E., Illig, T., Jarick, Ivonne, Volckmar, Anna-Lena, Wichmann Heinz-Erich, Peters, Annette, Illig Thomas, Ivonne Jarick (250179), Anke Hinney (87545), Johannes Hebebrand, Volckmar Anna-Lena, Peters Annette, Nadja Knoll, Annette Peters (62601), Heinz-Erich Wichmann, Scherag André, Annette Peters, Harald Grallert (72666), Thomas Illig (44906), Klingenspor, Martin, Peters, A., Illig, Thomas, Grallert Harald, Thomas Illig, Harald Grallert, Hebebrand Johannes, Johannes Hebebrand (170268), Gieger, Christian, Anke Hinney, Hinney Anke, Martin Klingenspor (68144), Scherag, André, Klingenspor, M., Grallert, H., Hinney, A., Hinney, Anke, Jarick, I., Volckmar, A.-L., André Scherag (170155), Heinz-Erich Wichmann (280949), Scherag, A., Knoll Nadja   +59 more
core   +1 more source

From energy provision to protein synthesis: Tunnelling nanotubes as mediators of intercellular metabolic cooperation in cancer

FEBS Open Bio, EarlyView.
The cytoskeleton‐mediated transport of mitochondria via tunnelling nanotubes restores respiration, increases ATP production, rescues cells from apoptosis, activates the AKT/mTOR signalling pathway, promotes cell migration and invasiveness, contributes to cancer progression and treatment resistance.
Stanislava Martínková, Jan Trnka
wiley   +1 more source

Establishment of THP-1 Monocytes with Compromised Mitochondrial Functions

, 2009
The process of inflammation is important for both normal health and in a number of diseases, such as metabolic disorders, autoimmune diseases, and neurodegenerative diseases. Mitochondria are vital for the functioning of all cells. It had been implicated
Chou, Tzu-wen Joy
core  

Integrating Mitochondrial Biology into Innovative Cell Therapies for Neurodegenerative Diseases. [PDF]

The role of mitochondria in neurodegenerative diseases is crucial, and recent developments have highlighted its significance in cell therapy. Mitochondrial dysfunction has been implicated in various neurodegenerative disorders, including Alzheimers ...
Giulivi, Cecilia, James M. Angelastro, Cecilia Giulivi, Angelastro, James, Ore, Adaleiz, Adaleiz Ore   +5 more
core   +1 more source