Results 201 to 210 of about 10,033,806 (381)

Pathway Analyses of Inherited Neuropathies Identify Putative Common Mechanisms of Axon Degeneration

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Inherited neuropathies (IN) are associated with over 100 different genetic mutations presenting with a variety of phenotypes. This complexity suggests multiple pathways may converge onto a limited number of downstream pathways to effect axonal injury.
Christopher R. Cashman, Craig Blackstone, Reza Sadjadi   +2 more
wiley   +1 more source

Biallelic IARS2 mutations presenting as sideroblastic anemia

Haematologica, 2020
Giulia Barcia, Dinusha Pandithan, Benedetta Ruzzenente, Zahra Assouline, Alessandra Pennisi, Clothilde Ormieres, Claude Besmond, Charles-Joris Roux, Nathalie Boddaert, Isabelle Desguerre, David R. Thorburn, Drago Bratkovic, Arnold Munnich, Jean-Paul Bonnefont, Agnès Rötig, Julie Steffann   +15 more
doaj   +1 more source

Hyperoxia Induced Alteration of Chromatin Structure in Human Bone Marrow Derived Primary Mesenchymal Stromal Cells

Advanced Biology, EarlyView.
Chromatin, which organizes DNA, changes its structure to adapt to stress like high oxygen levels (hyperoxia), which can damage cells. Researchers developed a technique to observe these changes and found variability in how different parts of chromatin remodel.
Lauren Monroe, Samantha Kaonis, Natalie Calahan, Neda Kabi, Soham Ghosh   +4 more
wiley   +1 more source

Mitochondrial diseases: advances and issues

The Application of Clinical Genetics, 2017
Mauro Scarpelli,1 Alice Todeschini,2 Irene Volonghi,2 Alessandro Padovani,2 Massimiliano Filosto2 1Department of Neuroscience, Unit of Neurology, Azienda Ospedaliera Universitaria Integrata Verona, Verona, Italy; 2Center for Neuromuscular Diseases and ...
Scarpelli M, Todeschini A, Volonghi I, Padovani A, Filosto M   +4 more
doaj  

The Effect of Photobiomodulation on the Treatment of Hereditary Mitochondrial Diseases. [PDF]

J Lasers Med Sci, 2023
Baskerville R, Krijgsveld N, Esser P, Jeffery G, Poulton J.   +4 more
europepmc   +1 more source

Mitochondrial dysfunction in neurodegenerative diseases

, 1998
M. Flint Beal
openalex   +1 more source

The Potential for Extracellular Vesicles in Nanomedicine: A Review of Recent Advancements and Challenges Ahead

Advanced Biology, EarlyView.
Extracellular vesicles (EVs) play a dual role in diagnostics and therapeutics, offering innovative solutions for treating cancer, cardiovascular, neurodegenerative, and orthopedic diseases. This review highlights EVs’ potential to revolutionize personalized medicine through specific applications in disease detection and treatment.
Farbod Ebrahimi, Anjali Kumari, Samaneh Ghadami, Saqer Al Abdullah, Kristen Dellinger   +4 more
wiley   +1 more source

Mitochondrial involvement in Parkinson’s disease, Huntington’s disease, hereditary spastic paraplegia and Friedreich’s ataxia

, 1999
Anthony H.V. Schapira
openalex   +1 more source

Wobble modification defect in tRNA disturbs codon-anticodon interaction in a mitochondrial disease [PDF]

, 2001
Takehiro Yasukawa, Tsutomu Suzuki, Norie Ishii, Shigeo Ohta, Kimitsuna Watanabe   +4 more
openalex   +1 more source

Murine Models and Human Cell Line Models to Study Altered Dynamics of Ovarian Follicles in Polycystic Ovary Syndrome

Advanced Biology, EarlyView.
The manuscript examines preclinical murine and human models to study polycystic ovary syndrome (PCOS), delving into the cellular and molecular mechanisms underlying altered ovarian follicular dynamics. It explores the cellular interactions involved in normal and PCOS ovaries and outlines the current and novel strategies in the search for preclinical ...
Arturo Bevilacqua, Cristiano Giuliani, Giovanna Di Emidio, Samuel H Myers, Vittorio Unfer, Carla Tatone   +5 more
wiley   +1 more source