Liana N Semcesen
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Explore the profile of Liana N Semcesen including associated specialties, affiliations and a list of published articles.
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Articles
4
Citations
37
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Recent Articles
1.
Semcesen L, Robinson D, Stroud D
Methods Enzymol
. 2024 Nov;
707:441-473.
PMID: 39488386
The development of easy-to-use gene-editing approaches has revolutionized the study of mitochondrial protein complex assembly in mammalian cells. Once the domain of classical cell biology models such Saccharomyces cerevisiae, human...
2.
Lunke S, Bouffler S, Patel C, Sandaradura S, Wilson M, Pinner J, et al.
Nat Med
. 2023 Jun;
29(7):1681-1691.
PMID: 37291213
Critically ill infants and children with rare diseases need equitable access to rapid and accurate diagnosis to direct clinical management. Over 2 years, the Acute Care Genomics program provided whole-genome...
3.
Van Bergen N, Gunanayagam K, Bournazos A, Walvekar A, Warmoes M, Semcesen L, et al.
Int J Mol Sci
. 2023 Feb;
24(4).
PMID: 36834994
We have previously reported that pathogenic variants in a key metabolite repair enzyme NAXD cause a lethal neurodegenerative condition triggered by episodes of fever in young children. However, the clinical...
4.
Kumar R, Corbett M, Smith N, Hock D, Kikhtyak Z, Semcesen L, et al.
NPJ Genom Med
. 2022 Jan;
7(1):9.
PMID: 35091571
TIMMDC1 encodes the Translocase of Inner Mitochondrial Membrane Domain-Containing protein 1 (TIMMDC1) subunit of complex I of the electron transport chain responsible for ATP production. We studied a consanguineous family...