Results 121 to 130 of about 2,461,819 (231)

Chronic kidney disease, severe arterial and arteriolar sclerosis and kidney neoplasia: on the spectrum of kidney involvement in MELAS syndrome

BMC Nephrology, 2012
Background MELAS syndrome (MIM ID#540000), an acronym for Mitochondrial Encephalopathy, Lactic Acidosis and Stroke-like episodes, is a genetically heterogeneous mitochondrial disorder with protean manifestations and occasional kidney involvement ...
Piccoli Giorgina, Bonino Laura, Campisi Paola, Vigotti Federica, Ferraresi Martina, Fassio Federica, Brocheriou Isabelle, Porpiglia Francesco, Restagno Gabriella   +8 more
doaj   +1 more source

MitoTALENs: A general approach to reduce mutant mtDNA loads and restore oxidative phosphorylation function in mitochondrial diseases [PDF]

, 2015
We have designed mitochondrially targeted Transcription Activator-Like Effector Nucleases or mitoTALENs to cleave specific sequences in the mitochondrial DNA (mtDNA) with the goal of eliminating mtDNA carrying pathogenic point mutations.
Bacman, Sandra R., Chan, David C., Chomyn, Anne, Falk, Marni J., Hashimoto, Masami, Moraes, Carlos T., Peralta, Susana, Williams, Sion L.   +7 more
core   +1 more source

Mitochondrial disease in children : from clinical presentation to genetic background [PDF]

, 2017
Mitochondrial disorders are amongst the most common groups of inborn errors of metabolism. They are caused by deficiencies in the final pathway of the cellular energy production, the mitochondrial respiratory chain.
Naess, Karin
core   +1 more source

Can Intestinal Pseudo-Obstruction Drive Recurrent Stroke-Like Episodes in Late-Onset MELAS Syndrome? A Case Report and Review of the Literature

Frontiers in Neurology, 2019
Mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS) syndrome is a maternally inherited mitochondrial disorder that is most commonly caused by the m.
Delia Gagliardi, E. Mauri, F. Magri, D. Velardo, M. Meneri, Elena Abati, R. Brusa, I. Faravelli, D. Piga, D. Ronchi, F. Triulzi, L. Peverelli, M. Sciacco, N. Bresolin, G. Comi, S. Corti, A. Govoni   +16 more
semanticscholar   +1 more source

Point mutations and diseases [PDF]

, 2010
Mutacije su nasljedne i trajne promjene u strukturi DNA molekule. Mutacije nastaju spontanim greškama tijekom replikacije DNA ili mogu biti inducirane nekim mutagenim agensima.
Bobinec, Adriana
core   +2 more sources

La Traducció genètica mitocondrial i malalties associades [PDF]

, 2013
En humans, com en la majoria d'organismes eucariotes, la síntesi proteica té lloc simultàniament al citoplasma i en orgànuls que posseeixen un genoma propi.
Guitart, Tanit, Ribas i de Pouplana, Lluís   +1 more
core  

Genetically and metabolically corrected pluripotent stem cells from patients with mtDNA disease [PDF]

, 2015
Ahmed, Riffat, Amato, Paula, Belmonte, Juan Carlos Izpisua, Folmes, Clifford DL, Gutierrez, Nuria Marti, Hayama, Tomonari, Huang, Taosheng, Kang, Eunju, Koski, Amy, Laurent, Louise C, Lee, Yeonmi, Li, Ying, Ma, Hong, Ma, Li, Mitalipov, Nargiz, Mitalipov, Shoukhrat, Mora-Castilla, Sergio, Morey, Robert, Ocampo, Alejandro, Poulton, Joanna, Terzic, Andre, Tippner-Hedges, Rebecca, Van Dyken, Crystal, Wang, Xinjian, Wolf, Don P, Wu, Jun   +25 more
core   +1 more source

Multisystem clinicopathologic and genetic analysis of MELAS

Orphanet Journal of Rare Diseases
Background and objectives Mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes (MELAS) syndrome is a maternally inherited mitochondrial disorder that mostly affects the central nervous system and skeletal muscle.
Shuai Xu, Jialiu Jiang, Leilei Chang, Biao Zhang, Xiaolei Zhu, Fengnan Niu   +5 more
doaj   +1 more source

Myoclonic Epilepsy and Ragged Red Fibers (MERRF) Syndrome: Selective Vulnerability of CNS Neurons Does Not Correlate with the Level of Mitochondrial tRNA^(lys) Mutation in Individual Neuronal Isolates [PDF]

, 1997
Selective vulnerability of subpopulations of neurons is a striking feature of neurodegeneration. Mitochondrially transmitted diseases are no exception.
Attardi, Giuseppe, Chomyn, Anne, Miller, Carol A., Zhou, Li   +3 more
core  

Magnetic Resonance Imaging and Spectroscopy of the Brain in MELAS Syndrome. [PDF]

Chonnam Med J, 2023
Tanitame K, Tanitame N.
europepmc   +1 more source