M Isabel G Lopez Sanchez
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Explore the profile of M Isabel G Lopez Sanchez including associated specialties, affiliations and a list of published articles.
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14
Citations
160
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Recent Articles
1.
Mackey D, Staffieri S, Lopez Sanchez M, Kearns L
Ophthalmic Genet
. 2025 Jan;
1-9.
PMID: 39833125
Aim: Leber hereditary optic neuropathy (LHON) predominantly manifests during adolescence or young adulthood, resulting in sudden and profound vision loss in individuals who previously had normal vision. This abrupt change...
2.
Mackey D, Ong J, Macgregor S, Whiteman D, Craig J, Lopez Sanchez M, et al.
Am J Hum Genet
. 2022 Dec;
110(1):170-176.
PMID: 36565701
Pedigree analysis showed that a large proportion of Leber hereditary optic neuropathy (LHON) family members who carry a mitochondrial risk variant never lose vision. Mitochondrial haplotype appears to be a...
3.
Burgin H, Crameri J, Stojanovski D, Lopez Sanchez M, Ziemann M, McKenzie M
Int J Mol Sci
. 2022 Oct;
23(20).
PMID: 36293464
The lack of effective treatments for mitochondrial disease has seen the development of new approaches, including those that stimulate mitochondrial biogenesis to boost ATP production. Here, we examined the effects...
4.
Singh L, Ennis B, Loneragan B, Tsao N, Lopez Sanchez M, Li J, et al.
PLoS Comput Biol
. 2021 Nov;
17(11):e1009594.
PMID: 34762648
The growing number of next-generation sequencing (NGS) data presents a unique opportunity to study the combined impact of mitochondrial and nuclear-encoded genetic variation in complex disease. Mitochondrial DNA variants and...
5.
Lopez Sanchez M, Kearns L, Staffieri S, Clarke L, McGuinness M, Meteoukki W, et al.
Am J Hum Genet
. 2021 Oct;
108(11):2159-2170.
PMID: 34670133
We conducted an updated epidemiological study of Leber hereditary optic neuropathy (LHON) in Australia by using registry data to establish the risk of vision loss among different LHON mutations, sex,...
6.
Lopez Sanchez M, Ziemann M, Bachem A, Makam R, Crowston J, Pinkert C, et al.
PLoS One
. 2020 Oct;
15(10):e0239804.
PMID: 33031404
Mitochondrial OXPHOS generates most of the energy required for cellular function. OXPHOS biogenesis requires the coordinated expression of the nuclear and mitochondrial genomes. This represents a unique challenge that highlights...
7.
Lopez Sanchez M, Cipullo M, Gopalakrishna S, Khawaja A, Rorbach J
Front Genet
. 2020 Aug;
11:761.
PMID: 32765591
Ribosomal RNA (rRNA) from all organisms undergoes post-transcriptional modifications that increase the diversity of its composition and activity. In mitochondria, specialized mitochondrial ribosomes (mitoribosomes) are responsible for the synthesis of...
8.
Lopez Sanchez M, Van Bergen N, Kearns L, Ziemann M, Liang H, Hewitt A, et al.
Mitochondrion
. 2020 Jul;
54:113-121.
PMID: 32687992
Leber hereditary optic neuropathy (LHON) is one of the most common primary mitochondrial diseases. It is caused by point mutations in mitochondrial DNA (mtDNA) genes and in some cases, it...
9.
Burgin H, Lopez Sanchez M, Smith C, Trounce I, McKenzie M
Int J Mol Sci
. 2020 Apr;
21(6).
PMID: 32244971
The lack of effective treatments for mitochondrial disease has seen the development of new approaches, including those that aim to stimulate mitochondrial biogenesis to boost ATP generation above a critical...
10.
Cimdins K, Waugh H, Chrysostomou V, Lopez Sanchez M, Johanssen V, Cook M, et al.
Mol Neurobiol
. 2019 Aug;
56(10):7249.
PMID: 31410736
The original version of this article unfortunately contained a mistake in the author name. The family name of Dr. Vanessa A. Johannsen should be written as "Johanssen."