Zobrazeno 1 - 10
of 47
pro vyhledávání: '"Anne Chiaramello"'
Publikováno v:
Neurotherapeutics, Vol 21, Iss 4, Pp e00397- (2024)
Externí odkaz:
https://doaj.org/article/b6350046adc446099d384929db196a36
Autor:
Martine Uittenbogaard, Andrea L. Gropman, Matthew T. Whitehead, Christine A. Brantner, Eliana Gropman, Anne Chiaramello
Publikováno v:
International Journal of Molecular Sciences, Vol 25, Iss 3, p 1386 (2024)
We report the case of a four-year-old male patient with a complex medical history born prematurely as the result of intrauterine growth restriction due to placental insufficiency. His clinical manifestations included severe neurodevelopmental deficit
Externí odkaz:
https://doaj.org/article/5fbd095a83b34a408b6b62f70e9aa8a6
Autor:
Martine Uittenbogaard, Kuntal Sen, Matthew Whitehead, Christine A. Brantner, Yue Wang, Lee-Jun Wong, Andrea Gropman, Anne Chiaramello
Publikováno v:
Frontiers in Cell and Developmental Biology, Vol 9 (2021)
In this study, we aimed to establish the mitochondrial etiology of the proband’s progressive neurodegenerative disease suggestive of an atypical Leigh syndrome, by determining the proband’s pathogenic variants. Brain MRI showed a constellation of
Externí odkaz:
https://doaj.org/article/06f11bc37c164741b6a31dd9040b958c
Autor:
Andrea Gropman, Martine Uittenbogaard, Christine A. Brantner, Yue Wang, Lee-Jun Wong, Anne Chiaramello
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 24, Iss , Pp 100609- (2020)
Alternative hemiplegia of childhood (AHC) is a rare neurodevelopmental disorder with an extensive phenotypic variability, resulting in a challenging clinical diagnosis. About 75% of AHC cases are caused by pathogenic variants mapping in the ATP1A3, A
Externí odkaz:
https://doaj.org/article/f6b5c362c0c74940b19beb32e1340334
Publikováno v:
Metabolites, Vol 11, Iss 4, p 233 (2021)
Mitochondria are dynamic multitask organelles that function as hubs for many metabolic pathways. They produce most ATP via the oxidative phosphorylation pathway, a critical pathway that the brain relies on its energy need associated with its numerous
Externí odkaz:
https://doaj.org/article/73dfe7f8ad174c1a864863a91d08b4f8
Publikováno v:
ASN Neuro, Vol 2 (2010)
Preserving mitochondrial mass, bioenergetic functions and ROS (reactive oxygen species) homoeostasis is key to neuronal differentiation and survival, as mitochondria produce most of the energy in the form of ATP to execute and maintain these cellular
Externí odkaz:
https://doaj.org/article/5ce1230a326d4f43a0cc2bfdec03fd57
Publikováno v:
ASN Neuro, Vol 1 (2009)
Mitochondria play a central role during neurogenesis by providing energy in the form of ATP for cytoskeletal remodelling, outgrowth of neuronal processes, growth cone activity and synaptic activity. However, the fundamental question of how differenti
Externí odkaz:
https://doaj.org/article/216f3a5fe07c4ba5a821accfd92f5f79
Autor:
Haorong Li, Martine Uittenbogaard, Ryan Navarro, Mustafa Ahmed, Andrea Gropman, Anne Chiaramello, Ling Hao
Publikováno v:
Molecular Omics. 18:196-205
MELAS (mitochondrial encephalomyopathy, lactic acidosis, stroke-like episodes) is a progressive neurodegenerative disease caused by pathogenic mitochondrial DNA variants. The pathogenic mechanism of MELAS remains enigmatic due to the exceptional clin
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::20aafa0bbbd1d11ba1572b3c062d1527
https://doi.org/10.1039/d1mo00416f
https://doi.org/10.1039/d1mo00416f
Publikováno v:
Molecular Genetics and Metabolism. 135:263-264
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::87e2c003fa19e66e946ac7baebe0d2b8
https://doi.org/10.1016/j.ymgme.2022.01.025
https://doi.org/10.1016/j.ymgme.2022.01.025
Autor:
Lee-Jun C. Wong, Anne Chiaramello, Martine Uittenbogaard, Christine A. Brantner, Andrea L. Gropman, ZiShui Fang
Publikováno v:
Mitochondrion
Little is known about the molecular mechanism of the rare coexistence of Leber's Hereditary Optic Neuropathy (LHON) and multiple sclerosis (MS), also known as the Harding's syndrome. In this study, we provide novel evidence that the m.11778A > G vari
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b5d4044750384b00902d273ac4cf8b7f
https://doi.org/10.1016/j.mito.2018.06.001
https://doi.org/10.1016/j.mito.2018.06.001