Výsledky vyhledávání - "Sze Chern Lim"

Akademický článek

Severe spinal cord hypoplasia due to a novel ATAD3A compound heterozygous deletion

Autor: Tomohiro Ebihara, Taro Nagatomo, Yohei Sugiyama, Tomoko Tsuruoka, Yoshiteru Osone, Masaru Shimura, Makiko Tajika, Keiko Ichimoto, Yuki Naruke, Nana Akiyama, Sze Chern Lim, Yukiko Yatsuka, Kazuhiro R. Nitta, Yoshihito Kishita, Takuya Fushimi, Atsuko Okazaki, Akira Ohtake, Yasushi Okazaki, Kei Murayama

Publikováno v: Molecular Genetics and Metabolism Reports, Vol 33, Iss , Pp 100912- (2022)

Biallelic deletions extending into the ATPase family AAA-domain containing protein 3A (ATAD3A) gene lead to infantile lethality with severe pontocerebellar hypoplasia (PCH). However, only 12 such cases have been reported worldwide to date, and the ge

Externí odkaz: https://doaj.org/article/188d708aee554ecca9d11c314c2a3186

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Active site variants in STT3A cause a dominant type I congenital disorder of glycosylation with neuromusculoskeletal findings

Publikováno v: American Journal of Human Genetics
r-IGTP. Repositorio Institucional de Producción Científica del Instituto de Investigación Germans Trias i Pujol
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The American Journal of Human Genetics
Wilson, M P, Garanto, A, Pinto e Vairo, F, Ng, B G, Ranatunga, W K, Ventouratou, M, Baerenfaenger, M, Huijben, K, Thiel, C, Ashikov, A, Keldermans, L, Souche, E, Vuillaumier-Barrot, S, Dupré, T, Michelakakis, H, Fiumara, A, Pitt, J, White, S M, Lim, S C, Gallacher, L, Peters, H, Rymen, D, Witters, P, Ribes, A, Morales-Romero, B, Rodríguez-Palmero, A, Ballhausen, D, de Lonlay, P, Barone, R, Janssen, M C H, Jaeken, J, Freeze, H H, Matthijs, G, Morava, E & Lefeber, D J 2021, ' Active site variants in STT3A cause a dominant type I congenital disorder of glycosylation with neuromusculoskeletal findings ', American Journal of Human Genetics, vol. 108, no. 11, pp. 2130-2144 . https://doi.org/10.1016/j.ajhg.2021.09.012
American Journal of Human Genetics, 108(11), 2130-2144. Cell Press
American Journal of Human Genetics, 108, 11, pp. 2130-2144
American Journal of Human Genetics, 108, 2130-2144
Am J Hum Genet

Congenital disorders of glycosylation (CDGs) form a group of rare diseases characterized by hypoglycosylation. We here report the identification of 16 individuals from nine families who have either inherited or de novo heterozygous missense variants

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f124a26c20753d3232c900ffc2a8a140
https://research.vu.nl/en/publications/1bed4f1e-f652-4ed4-a577-46c9142faa56

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Expanding the genetic landscape of Rett syndrome to include lysine acetyltransferase 6A (KAT6A)

Publikováno v: Journal of Genetics and Genomics. 47:650-654

Pathogenic variants in methyl-CpG protein 2 (MECP2; OMIM 300005) result in an X-linked, severe, and progressive epigenetic disorder, Rett syndrome (RTT, OMIM: 312750), that predominantly affects females (Rett, 1966). Using Neul's revised diagnostic c

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c96991d5ec2eaaa44197efc6bab7dc7c
https://doi.org/10.1016/j.jgg.2020.09.003

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MicroRNA-101-3p Modulates Mitochondrial Metabolism via the Regulation of Complex II Assembly

Autor: Diana Stojanovski, M Isabel G Lopez Sanchez, Yilin Kang, Michael P. Gantier, Sze Chern Lim, Matthew McKenzie, Sona Samuel, Mark Ziemann

Publikováno v: Journal of molecular biology. 434(2)

MicroRNA-101-3p (miR-101-3p) is a tumour suppressor that regulates cancer proliferation and apoptotic signalling. Loss of miR-101-3p increases the expression of the Polycomb Repressive Complex 2 (PRC2) subunit enhancer of zeste homolog 2 (EZH2), resu

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e683538bf62560b6e9d61756822bdf9b
https://pubmed.ncbi.nlm.nih.gov/34808225

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Mitochondrial ribosomal protein PTCD3 mutations cause oxidative phosphorylation defects with Leigh syndrome

Autor: Yuichiro Hisatomi, Keiko Ichimoto, Akira Ohtake, Nurun Nahar Borna, Masakazu Kohda, Takuya Fushimi, Yibo Wu, Kei Murayama, Yasushi Okazaki, Kaoru Mogushi, Masaru Shimura, Yoshihito Kishita, Sze Chern Lim, Hiroko Harashima, Yukiko Yatsuka

Publikováno v: neurogenetics. 20:9-25

Pentatricopeptide repeat domain proteins are a large family of RNA-binding proteins involved in mitochondrial RNA editing, stability, and translation. Mitochondrial translation machinery defects are an expanding group of genetic diseases in humans. W

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::f56a63a952cf8d10ddf0e47e9853094c
https://doi.org/10.1007/s10048-018-0561-9

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Loss of the Mitochondrial Fatty Acid β-Oxidation Protein Medium-Chain Acyl-Coenzyme A Dehydrogenase Disrupts Oxidative Phosphorylation Protein Complex Stability and Function

Autor: Akira Ohtake, Masaru Shimura, Kirstyn T. Carey, Makiko Tajika, Matthew McKenzie, Kei Murayama, David A. Stroud, Sze Chern Lim

Publikováno v: Scientific Reports
Scientific Reports, Vol 8, Iss 1, Pp 1-17 (2018)

Medium-chain acyl-Coenzyme A dehydrogenase (MCAD) is involved in the initial step of mitochondrial fatty acid β-oxidation (FAO). Loss of function results in MCAD deficiency, a disorder that usually presents in childhood with hypoketotic hypoglycemia

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fa3d6c76451450d1c43eb7d7e2ea6ead
https://pubmed.ncbi.nlm.nih.gov/29317722

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