Mutation update on ACAT1 variants associated with mitochondrial acetoacetyl‐CoA thiolase (T2) deficiency-Reference-Cited by-同舟云学术

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Mutation update on ACAT1 variants associated with mitochondrial acetoacetyl‐CoA thiolase (T2) deficiency

Published:2019-07-03 Issue:10 Volume:40 Page:1641-1663
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Human Mutation

Author:

Abdelkreem Elsayed¹²^ORCID,Harijan Rajesh K.³,Yamaguchi Seiji⁴,Wierenga Rikkert K.⁵,Fukao Toshiyuki¹

Affiliation:

1. Department of Pediatrics, Graduate School of MedicineGifu University Gifu Japan

2. Department of Pediatrics, Faculty of MedicineSohag University Sohag Egypt

3. Department of BiochemistryAlbert Einstein College of Medicine New York New York

4. Department of PediatricsShimane University School of Medicine Izumo Japan

5. Biocenter Oulu and FBMMUniversity of Oulu Oulu Finland

Funder

Japan Agency for Medical Research and Development

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/humu.23831

Reference81 articles.

1. Beta-Ketothiolase Deficiency

2. Clinical and Mutational Characterizations of Ten Indian Patients with Beta-Ketothiolase Deficiency

3. Two Libyan siblings with beta-ketothiolase deficiency: A case report and review of literature

4. Metabolic encephalopathy in beta-ketothiolase deficiency: The first report from India

5. Beta‐ketothiolase deficiency: A case with unusual presentation of nonketotic hypoglycemic episodes due to coexistent probable secondary carnitine deficiency

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1. Diabetic ketoacidosis in an adult with beta-ketothiolase deficiency (BKD) involving a novel ACAT1 variant : first report of established diabetes in BKD and a review of the literature;Clinical Diabetes and Endocrinology;2024-06-10

2. Ketones in the Life Sciences – Biochemistry, Metabolism, and Medicinal Significances;Biochemistry;2024-05-24

3. ACAT2 suppresses the ubiquitination of YAP1 to enhance the proliferation and metastasis ability of gastric cancer via the upregulation of SETD7;Cell Death & Disease;2024-04-26

4. Identification of hub genes in meat quality of grass carp ( Ctenopharyngodon idellus ) fed with faba bean by muscle tissue transcriptomic analysis;Italian Journal of Animal Science;2024-04-21

5. The mitochondrial thiolase ACAT1 regulates monocyte/macrophage type I interferonviaepigenetic control;2024-01-31

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