Zobrazeno 1 - 10
of 25
pro vyhledávání: '"Maternally inherited leigh syndrome"'
Autor:
Olukorede, Opeoluwa
Mitochondrial diseases are caused by gene mutations in either mitochondrial DNA (mtDNA) or nuclear DNA (nDNA) and they are among one of the most common forms of inherited disorders. It is estimated that 1 out of every 5000 individuals will develop a
Externí odkaz:
https://hdl.handle.net/2144/47456
Autor:
Xinde Zheng, Leah Boyer, Mingji Jin, Yongsung Kim, Weiwei Fan, Cedric Bardy, Travis Berggren, Ronald M Evans, Fred H Gage, Tony Hunter
Publikováno v:
eLife, Vol 5 (2016)
mTOR inhibition is beneficial in neurodegenerative disease models and its effects are often attributable to the modulation of autophagy and anti-apoptosis. Here, we report a neglected but important bioenergetic effect of mTOR inhibition in neurons. m
Externí odkaz:
https://doaj.org/article/33701fc01b264587a4c9be099cc54e22
Autor:
María Roqué, Lía Mayorga, Adriana P. Correa, Mariana Loos, María J. Guillamondegui, Verónica H. Araoz, Juan Agustín Cueto, Sergio Laurito
Publikováno v:
CONICET Digital (CONICET)
Consejo Nacional de Investigaciones Científicas y Técnicas
instacron:CONICET
Consejo Nacional de Investigaciones Científicas y Técnicas
instacron:CONICET
Leigh syndrome (LS) is a mitochondrial progressive encephalopathy characterized by bilateral symmetric necrotic lesions of the central nervous system. Maternally inherited Leigh Syndrome (MILS) represents 10–20% of LS. Mutations in MT-ATP6 are the
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b2f138d35b58338853bbe0ebce36469b
https://doi.org/10.1080/23802359.2018.1553510
https://doi.org/10.1080/23802359.2018.1553510
Autor:
Lee-Jun C. Wong, Anne Chiaramello, ZiShui Fang, Martine Uittenbogaard, Andrea L. Gropman, Christine A. Brantner
Publikováno v:
Molecular Genetics and Metabolism. 124:71-81
In this study, we report a novel perpective of metabolic consequences for the m.8993T > G variant using fibroblasts from a proband with clinical symptoms compatible with Maternally Inherited Leigh Syndrome (MILS). Definitive diagnosis was corroborate
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::198e42bfd479e5320adc27ecf97cae9c
https://doi.org/10.1016/j.ymgme.2018.03.011
https://doi.org/10.1016/j.ymgme.2018.03.011
Autor:
Ronald M. Evans, Xinde Zheng, Cedric Bardy, Leah Boyer, Yongsung Kim, Fred H. Gage, Mingji Jin, Travis Berggren, Tony Hunter, Weiwei Fan
Publikováno v:
eLife
eLife, Vol 5 (2016)
eLife, Vol 5 (2016)
mTOR inhibition is beneficial in neurodegenerative disease models and its effects are often attributable to the modulation of autophagy and anti-apoptosis. Here, we report a neglected but important bioenergetic effect of mTOR inhibition in neurons. m
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1430dc42b5e0aa86d750c8e80d53a1f6
https://doi.org/10.7554/elife.13378
https://doi.org/10.7554/elife.13378
Autor:
Anne Chiaramello, Andrea L. Gropman
Publikováno v:
Molecular Genetics and Metabolism Reports
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2d851f65f55c38e5323cb765bcc8a934
https://doi.org/10.1016/j.ymgmr.2018.04.004
https://doi.org/10.1016/j.ymgmr.2018.04.004
Autor:
Mohamed Tahar Sfar, Raoudha Bousoffara, Faiza Fakhfakh, Samia Younes, Emna Mkaouar-Rebai, Wissem Chaari
Publikováno v:
Pediatric Neurology. 40:437-442
Leigh syndrome is a genetically heterogeneous, neurodegenerative disorder that predominantly affects children and leads to death within months or years. Mutations causing this disease have been found in both mitochondrial and nuclear DNA. The present
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c481f43b07088173e18775e1323810df
https://doi.org/10.1016/j.pediatrneurol.2009.01.004
https://doi.org/10.1016/j.pediatrneurol.2009.01.004
Autor:
Annarita Stringaro, Teresa Rizza, Filippo M. Santorelli, Rosalba Carrozzo, Walter Malorni, Elisabetta Mormone, Roberta Pierini, Paola Matarrese
Publikováno v:
Journal of Neurochemistry. 90:490-501
The key role of mitochondria in the apoptotic process is well understood, but not many data are available regarding the specific role of mitochondrial DNA mutations in determining cell fate. We investigated whether two mitochondrial DNA mutations (L2
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d494c201edcca7752b8e2e35c5017b6f
https://doi.org/10.1111/j.1471-4159.2004.02505.x
https://doi.org/10.1111/j.1471-4159.2004.02505.x
Autor:
Gabriele Hahn, S. Kinder, Nataliya DiDonato, Sandra Jackson, Jens Schallner, M. von der Hagen
Publikováno v:
Neuropediatrics. 45
Objective: The m.8993T>G mutation in the gene MT-ATP6 (MIM:516060) which encodes subunit six of complex V (adenosine triphosphate synthase) of the mitochondrial respiratory chain is one of the more common disease associated mutations in mitochondrial
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::72167815db19a36311b0815d3a74ba33
https://doi.org/10.1055/s-0034-1390642
https://doi.org/10.1055/s-0034-1390642
Publikováno v:
Molecular genetics and metabolism. 107(3)
Mutations in mitochondrial DNA (mtDNA) encoded nucleotide 8993 can cause NARP syndrome (neuropathy, ataxia, and retinitis pigmentosa) or MILS (maternally inherited Leigh syndrome). The rare T8993C mutation in the MT-ATP6 gene is generally considered
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cd069ca58aadd699ecc29c05ac9f1898
https://pubmed.ncbi.nlm.nih.gov/22819295
https://pubmed.ncbi.nlm.nih.gov/22819295