Abnormal concentrations of acetylated amino acids in cerebrospinal fluid in <scp>acetyl‐CoA</scp> transporter deficiency-Reference-Cited by-同舟云学术

Abnormal concentrations of acetylated amino acids in cerebrospinal fluid in acetyl‐CoA transporter deficiency

Published:2022-09-11 Issue:6 Volume:45 Page:1048-1058
ISSN:0141-8955
Container-title:Journal of Inherited Metabolic Disease
language:en
Short-container-title:J of Inher Metab Disea

Author:

Šikić Katarina¹^ORCID,Peters Tessa M. A.²³,Marušić Eugenija⁴⁵,Čagalj Ivana Čulo⁴⁵,Ramadža Danijela Petković¹⁶,Žigman Tamara¹⁶,Fumić Ksenija⁷,Fernandez Esperanza⁸⁹,Gevaert Kris⁸⁹,Debeljak Željko¹⁰¹¹,Wevers Ron A.³,Barić Ivo¹⁶

Affiliation:

1. Department of Pediatrics University Hospital Center Zagreb Zagreb Croatia

2. Department of Neurology, Donders Institute for Brain, Cognition and Behavior Radboud University Medical Center Nijmegen Netherlands

3. Department of Laboratory Medicine, Translational Metabolic Laboratory Radboud University Medical Center Nijmegen Netherlands

4. Department of Pediatrics University Hospital Center Split Split Croatia

5. University of Split, School of Medicine Split Croatia

6. University of Zagreb, School of Medicine Zagreb Croatia

7. Department of Laboratory Diagnostics University Hospital Centre Zagreb Zagreb Croatia

8. VIB Center for Medical Biotechnology Ghent Belgium

9. Department of Biomolecular Medicine Ghent University Ghent Belgium

10. Clinical Institute of Laboratory Diagnostics University Hospital Osijek Osijek Croatia

11. Faculty of Medicine Josip Juraj Strossmayer University of Osijek Osijek Croatia

Funder

Sveučilište u Zagrebu

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/jimd.12549

Reference43 articles.

1. AT-1 is the ER membrane acetyl-CoA transporter and is essential for cell viability

2. Expression cloning and characterization of a cDNA encoding a novel membrane protein required for the formation of O-acetylated ganglioside: A putative acetyl-CoA transporter

3. Nε-lysine acetylation in the endoplasmic reticulum – a novel cellular mechanism that regulates proteostasis and autophagy

4. SLC33A1/AT-1 Protein Regulates the Induction of Autophagy Downstream of IRE1/XBP1 Pathway

5. A Missense Mutation in SLC33A1, which Encodes the Acetyl-CoA Transporter, Causes Autosomal-Dominant Spastic Paraplegia (SPG42)

Cited by 4 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Focus on cuproptosis: Exploring new mechanisms and therapeutic application prospects of cuproptosis regulation;Biomedicine & Pharmacotherapy;2024-09

2. Huppke–Brendel syndrome: Novel cases and a therapeutic trial with ketogenic diet and N‐acetylcysteine;JIMD Reports;2024-07-19

3. Metabolite transport across central nervous system barriers;Journal of Cerebral Blood Flow & Metabolism;2024-03-28

4. Secretion of acetylated amino acids by drug-induced cancer cells: perspectives on metabolic-epigenetic alterations;Epigenomics;2023-10