Results 51 to 60 of about 3,285 (240)

m.10010T>C Mitochondrial Disease: A Case Report With Hypoparathyroidism and Review of the Literature

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Mitochondria are essential intracellular organelles that play a critical role in cellular metabolism, including the regulation of intracellular calcium signaling. Advances in genomic sequencing have facilitated the identification of rare pathogenic mitochondrial DNA (mtDNA) genetic variants in patients with unexplained endocrine disorders.
Jacob Mohr, Anja Lisbeth Frederiksen, Morten Duno, Anne Pernille Hermann, Trine Maxel Juul, Simone Rask Nielsen   +5 more
wiley   +1 more source

Macular dystrophy associated with the mitochondrial DNA A3243G mutation: pericentral pigment deposits or atrophy? Report of two cases and review of the literature. [PDF]

, 2014
BACKGROUND: The A3243G point mutation in mitochondrial DNA (mtDNA) is associated with MELAS (mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes) and MIDD syndromes (maternally inherited diabetes and deafness).
Borruat, F.X., Daruich, A., Matet, A.
core   +1 more source

Biomaterial design strategies for enhancing mitochondrial transplantation therapy

BMEMat, EarlyView.
Biomaterials to facilitate mitochondrial transplantation therapy: biomaterials as barriers to protect mitochondria from pathophysiological microenvironments, like osmotic stress caused by the excessive concentration of calcium ion, reactive oxygen species, and advanced glycation end products; biomaterials integrating with biochemical cues to improve ...
Shaoyang Kang, Yushan Zhang, Hang Li, Sirui Peng, Donghao Lyu, Chunxiao Zhou, Sheng Ding, Zujian Feng, Pingsheng Huang, Chuangnian Zhang, Hongjun Wang, Deling Kong, Weiwei Wang   +12 more
wiley   +1 more source

The role of Coenzyme Q10 in statin-associated myopathy [PDF]

, 2009
Statins, or 3-hydroxyl-3-methylglutaryl coenzyme HMG-CoA reductase inhibitors,\ud are cholesterol-lowering drugs which are frequently used in the primary and secondary\ud prevention of coronary artery disease. Current research and recommendations support\
Kalra, Dr Sanjay
core  

Neurological, Psychiatric, and Biochemical Aspects of Thiamine Deficiency in Children and Adults. [PDF]

, 2019
Thiamine (vitamin B1) is an essential nutrient that serves as a cofactor for a number of enzymes, mostly with mitochondrial localization. Some thiamine-dependent enzymes are involved in energy metabolism and biosynthesis of nucleic acids whereas others ...
Adams, Alfadhel, Alfadhel, Alfadhel, Aljabri, Anwar, Aronson, Arts, Attwell, Baio, Banka, Barennes, Benton, Bettendorff, Bettendorff, Biesecker, Brown, Butterworth, Butterworth, Butterworth, Calhau, Carney, Chandrakumar, Chen, Cheung, Chornyy, Chugani, Colbert, Croft, Day, De Meirleir, Fattal-Valevski, Fattal-Valevski, Fleming, Forouhi, Foulon, Foulon, Fraccascia, Fraccascia, Fraser, Frustaci, Fujita, Galvin, Ganapathy, Gangolf, Ganie, Ghaleiha, Gibson, Giulivi, Gold, Greenwood, Gu, Harel, Hiffler, Hilker, Inaba, Ishaque, Israels, Jankowska-Kulawy, Junior, Kamasak, Karabatsiakis, Kelley, Kerns, Khaw, Kitamura, Kornreich, Kril, Laforenza, Leichter, Lindhurst, Liu, Lonsdale, Lonsdale, Lonsdale, Lorber, Lu, Lukienko, Luxemburger, Lương, Ma, Magos, Mahajan, Mahmood, Martel, Martin, Mayr, McLure, Mergenthaler, Mezzar, Mimouni-Bloch, Molina, Mulholland, Mulle, Muoio, Murata, Nabokina, Nabokina, Nardone, Navarro, Nikseresht, Obrenovich, Oishi, Opdenakker, Ortega Garcia, Ortigoza-Escobar, Pepersack, Perez-Duenas, Plaitakis, Prabakaran, Prohaska, Rabie, Randle, Renthal, Rindi, Rindi, Robinson, Roust, Rubio-Lopez, Said, Schaller, Scrimshaw, Sequeira Lopes da Silva, Shi, Singleton, Siu, Skjeldal, Smidt, Society, Song, Sperringer, Spiegel, Stargrove, Subramanian, Subramanian, Sweet, Tabarki, Talwar, Thomson, Thornalley, van den Brink, Vasconcelos, Vernau, Vernau, Vimokesant, Watkins, Wendel, Whitfield, Whitfield, Wierzbicki, Williams, Yang, Zhang, Zhao, Zuccoli   +154 more
core   +2 more sources

Ictal–interictal continuum and status epilepticus: Two sides of the same coin? A prospective magnetic resonance imaging study

Epilepsia, EarlyView.
Abstract Objective Status epilepticus (SE) is the most severe expression of seizures, encompassing both SE with prominent motor symptoms and nonconvulsive SE (NCSE). Ictal–interictal continuum (IIC), an electroencephalographic phenomenon, is characterized by periodic discharges (PD), spike‐and‐waves or sharp‐and‐waves (SW), or lateralized rhythmic ...
Pilar Bosque‐Varela, Lukas Machegger, Wanda Lauth, Panagiota Eleni Tsalouchidou, Susanne Knake, Georg Zimmermann, Nicolas Jannone‐Pedro, Giada Giovannini, Stefano Meletti, Adrian Ridski Harsono, Fabio Rossini, Markus Leitinger, Johannes Pfaff, Sándor Beniczky, Eugen Trinka, Giorgi Kuchukhidze   +15 more
wiley   +1 more source

Inhibition of cytochrome c oxidase activity in rat cerebral cortex and human skeletal muscle by d-2-hydroxyglutaric acid in vitro [PDF]

, 1926
l-2-Hydroxyglutaric (LGA) and d-2-hydroxyglutaric (DGA) acids are the characteristic metabolites accumulating in the neurometabolic disorders known as l-2-hydroxyglutaric aciduria and d-2-hydroxyglutaric aciduria, respectively.
da Silva, Cleide G, Ribeiro, César A.J, Leipnitz, Guilhian, Dutra-Filho, Carlos S, Wyse, Ângela T.S, Wannmacher, Clóvis M.D, Sarkis, João J.F, Jakobs, Cornelis, Wajner, Moacir   +8 more
core   +1 more source

Genetic epilepsies with myoclonic seizures: Mechanisms and syndromes

Epilepsia Open, EarlyView.
Abstract Genetic epilepsy with myoclonic seizures encompasses a heterogeneous spectrum of conditions, ranging from benign and self‐limiting forms to severe, progressive disorders. While their causes are diverse, a significant proportion stems from genetic abnormalities.
Antonietta Coppola, Marica Rubino, Antonella Riva, Pasquale Striano   +3 more
wiley   +1 more source

Primary Coenzyme Q10 Deficiency [PDF]

, 2017
open4siCLINICAL CHARACTERISTICS: Primary coenzyme Q10 (CoQ10) deficiency is usually associated with multisystem involvement, including neurologic manifestations such as fatal neonatal encephalopathy with hypotonia; a late-onset slowly progressive ...
Doimo, Mara, Navas, P., Salviati, Leonardo, Trevisson, Eva   +3 more
core  

Biallelic mutations in valyl-tRNA synthetase gene VARS are associated with a progressive neurodevelopmental epileptic encephalopathy. [PDF]

, 2019
Aminoacyl-tRNA synthetases (ARSs) function to transfer amino acids to cognate tRNA molecules, which are required for protein translation. To date, biallelic mutations in 31 ARS genes are known to cause recessive, early-onset severe multi-organ diseases ...
Accogli, Andrea, Ben-Omran, Tawfeg, Bernard, Geneviève, Chowdhury, Shimul, Crawford, John R, Dimmock, David, Friedman, Jennifer, Gleeson, Joseph G, Guerrero, Kether, Hildreth, Amber, Issa, Mahmoud Y, James, Kiely N, Kingsmore, Stephen F, Koehler, Alanna E, Lo, Wing-Sze, Mendes, Marisa I, Musaev, Damir, Nahas, Shareef, Omar, Tarek EI, Salomons, Gajja S, Smith, Desiree E, Stanley, Valentina, Tran, Luan T, Wang, Rengang, Wigby, Kristen, Wright, Meredith S, Xu, Zhiwen, Zaki, Maha S, Zhai, Liting   +28 more
core   +2 more sources