Zobrazeno 1 - 10
of 17
pro vyhledávání: '"Neal D. Mathew"'
Autor:
Chynna N. Broxton, Prabhjot Kaur, Manuela Lavorato, Smruthi Ganesh, Rui Xiao, Neal D. Mathew, Eiko Nakamaru-Ogiso, Vernon E. Anderson, Marni J. Falk
Publikováno v:
JCI Insight, Vol 7, Iss 20 (2022)
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 dld-1(RNA
Externí odkaz:
https://doaj.org/article/5b614ede15e547d7b1818c48a4c71263
Autor:
Manuela Lavorato, Eiko Nakamaru-Ogiso, Neal D. Mathew, Elizabeth Herman, Nina Shah, Suraiya Haroon, Rui Xiao, Christoph Seiler, Marni J. Falk
Publikováno v:
JCI Insight, Vol 7, Iss 16 (2022)
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 with l
Externí odkaz:
https://doaj.org/article/31b627c55d6e42e28f80a7fa812713dd
Publikováno v:
Journal of Toxicology, Vol 2011 (2011)
Gasotransmitters are biologically produced gaseous signalling molecules. As gases with potent biological activities, they are toxic as air pollutants, and the sulfurous compounds are used as fumigants. Most investigations focus on medical aspects of
Externí odkaz:
https://doaj.org/article/b3c7dbabbe174627bf33c8aa9c17de97
Autor:
Suraiya Haroon, Heeyong Yoon, Christoph Seiler, Bruce Osei-Frimpong, Jie He, Rohini M Nair, Neal D Mathew, Leonard Burg, Melis Kose, Chavali R M Venkata, Vernon E Anderson, Eiko Nakamaru-Ogiso, Marni J Falk
Publikováno v:
Human Molecular Genetics.
SURF1 deficiency (OMIM # 220110) causes Leigh syndrome (LS, OMIM # 256000), a mitochondrial disorder typified by stress-induced metabolic strokes, neurodevelopmental regression and progressive multisystem dysfunction. Here, we describe two novel surf
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::d7eacf579536440f07848b6333407758
https://doi.org/10.1093/hmg/ddad031
https://doi.org/10.1093/hmg/ddad031
Autor:
Ankit, Sabharwal, Bibekananda, Kar, Santiago, Restrepo-Castillo, Shannon R, Holmberg, Neal D, Mathew, Benjamin Luke, Kendall, Ryan P, Cotter, Zachary, WareJoncas, Christoph, Seiler, Eiko, Nakamaru-Ogiso, Karl J, Clark, Stephen C, Ekker
Publikováno v:
The CRISPR Journal
Functional analyses of mitochondria have been hampered by few effective approaches to manipulate mitochondrial DNA (mtDNA) and a lack of existing animal models. Recently a TALE-derived base editor was shown to induce C-to-T (or G-to-A) sequence chang
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::a4ee134934ed7ecb032576af95f191f7
https://pubmed.ncbi.nlm.nih.gov/34847747
https://pubmed.ncbi.nlm.nih.gov/34847747
Autor:
Manuela Lavorato, Eiko Nakamaru-Ogiso, Neal D. Mathew, Elizabeth Herman, Nina Shah, Suraiya Haroon, Rui Xiao, Christoph Seiler, Marni J. Falk
Publikováno v:
JCI insight. 7(16)
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 with l
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5f362bafefb64c23267f6cbc4ee549cc
https://pubmed.ncbi.nlm.nih.gov/35881484
https://pubmed.ncbi.nlm.nih.gov/35881484
Autor:
Min Peng, Neal D Mathew, Michael J. Bennett, Richard Lightfoot, Rui Xiao, Chigoziri Konkwo, Manuela Lavorato, Young Joon Kwon, Eiko Nakamaru-Ogiso, Zhe Zhang, Julian Ostrovsky, Marni J. Falk, Christoph Seiler, Sujay Guha, Erzsebet Polyak
Publikováno v:
Hum Mol Genet
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 mitochondrial
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::416dd3929e22bc73f5cefa920440f43b
https://doi.org/10.1093/hmg/ddz023
https://doi.org/10.1093/hmg/ddz023
Publikováno v:
J Vis Exp
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 genetic and drug
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::17f07bc66e61a7a5f22d9a939519daac
https://pubmed.ncbi.nlm.nih.gov/33871460
https://pubmed.ncbi.nlm.nih.gov/33871460
Publikováno v:
Journal of Visualized Experiments.
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 genetic and drug
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a4912c58acb624fc0a2ec0adc47164b9
https://doi.org/10.3791/62244-v
https://doi.org/10.3791/62244-v
Autor:
Zhe Zhang, Young Joon Kwon, Sujay Guha, Chigoziri Konkwo, Marni J. Falk, Erzsebet Polyak, Christoph Seiler, Rui Xiao, Neal D Mathew, Eiko Nakamaru-Ogiso, Michael J. Bennett, Julian Ostrovsky
Publikováno v:
Human Molecular Genetics
Mitochondrial respiratory chain disorders are empirically managed with variable antioxidant, cofactor and vitamin ‘cocktails’. However, clinical trial validated and approved compounds, or doses, do not exist for any single or combinatorial mitoch
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5e51adbc1fdb955136895c5b2c9436a6
https://pubmed.ncbi.nlm.nih.gov/33640978
https://pubmed.ncbi.nlm.nih.gov/33640978