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Manuela Lavorato

Explore the profile of Manuela Lavorato including associated specialties, affiliations and a list of published articles. Areas
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Articles 16
Citations 195
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Recent Articles
1.
Lavorato M, Iadarola D, Remes C, Kaur P, Broxton C, Mathew N, et al.
JCI Insight . 2024 Aug; 9(18). PMID: 39163131
Dihydrolipoamide dehydrogenase (DLD) deficiency is a recessive mitochondrial disease caused by variants in DLD, the E3 subunit of mitochondrial α-keto (or 2-oxo) acid dehydrogenase complexes. DLD disease symptoms are multisystemic,...
2.
Sharma S, Magnitsky S, Reesey E, Schwartz M, Haroon S, Lavorato M, et al.
Zebrafish . 2023 Aug; 21(1):28-38. PMID: 37603286
Zebrafish () is a widely used vertebrate animal for modeling genetic diseases by targeted editing strategies followed by gross phenotypic and biomarker characterization. While larval transparency permits microscopic detection of...
3.
Broxton C, Kaur P, Lavorato M, Ganesh S, Xiao R, Mathew N, et al.
JCI Insight . 2022 Oct; 7(20). PMID: 36278487
Dihydrolipoamide dehydrogenase (DLD) deficiency is a recessive mitochondrial disorder caused by depletion of DLD from α-ketoacid dehydrogenase complexes. Caenorhabditis elegans animal models of DLD deficiency generated by graded feeding of...
4.
Lavorato M, Nakamaru-Ogiso E, Mathew N, Herman E, Shah N, Haroon S, et al.
JCI Insight . 2022 Jul; 7(16). PMID: 35881484
Pathogenic variants in the human F-box and leucine-rich repeat protein 4 (FBXL4) gene result in an autosomal recessive, multisystemic, mitochondrial disorder involving variable mitochondrial depletion and respiratory chain complex deficiencies...
5.
Lavorato M, Mathew N, Shah N, Nakamaru-Ogiso E, Falk M
J Vis Exp . 2021 Apr; (170). PMID: 33871460
Caenorhabditis elegans is widely recognized for its central utility as a translational animal model to efficiently interrogate mechanisms and therapies of diverse human diseases. Worms are particularly well-suited for high-throughput...
6.
Lavorato M, Formenti F, Franzini-Armstrong C
Exp Physiol . 2020 Mar; 105(4):606-612. PMID: 32189419
New Findings: What is the topic for this review? This review summarizes recent discoveries in mitochondrial development and morphology studied with electron microscopy. What advances does it highlight? Although mitochondria...
7.
Iyer R, Monfredi O, Lavorato M, Terasaki M, Franzini-Armstrong C
FASEB Bioadv . 2020 Mar; 2(2):106-115. PMID: 32123860
The main mammalian heart pacemakers are spindle-shaped cells compressed into tangles within protective layers of collagen in the sino-atrial node (SAN). Two cell types, "dark" and "light," differ on their...
8.
Lavorato M, Iyer R, Franzini-Armstrong C
Eur J Transl Myol . 2019 Jul; 29(2):8264. PMID: 31354929
Using a variety of technical approaches, we have detected the presence of continuous triads that cover the entire length of T tubules in the main white body muscles of several...
9.
Guha S, Konkwo C, Lavorato M, Mathew N, Peng M, Ostrovsky J, et al.
Hum Mol Genet . 2019 Jan; 28(11):1837-1852. PMID: 30668749
Cysteamine bitartrate is a US Food and Drug Administration-approved therapy for nephropathic cystinosis also postulated to enhance glutathione biosynthesis. We hypothesized this antioxidant effect may reduce oxidative stress in primary...
10.
Lavorato M, Loro E, Debattisti V, Khurana T, Franzini-Armstrong C
J Cell Sci . 2018 Nov; 131(23). PMID: 30404834
Mitochondria respond to stress and undergo fusion and fission at variable rates, depending on cell status. To understand mitochondrial behavior during muscle fatigue, we investigated mitochondrial ultrastructure and expression levels...