PACS gene family-related neurological diseases: limited genotypes and diverse phenotypes-Reference-Cited by-同舟云学术

PACS gene family-related neurological diseases: limited genotypes and diverse phenotypes

Published:2023-01-16 Issue:1 Volume:20 Page:82-91
ISSN:1708-8569
Container-title:World Journal of Pediatrics
language:en
Short-container-title:World J Pediatr

Author:

Zhang Han,Gao Kai,Wang Shuang,Zhang Yue-Hua,Yang Zhi-Xian,Wu Ye,Jiang Yu-Wu^ORCID

Funder

Beijing Key Laboratory of Molecular Diagnosis and Study on Pediatric Genetic Diseases

Capital Health Research and Development of Special Fund

Fundamental Research Funds for the Central Universities

the National Key Research and Development Program of China

the National Natural Science Foundation of China

Beijing Natural Science Foundation

National High Level Hospital Clinical Research Funding

Key Project of Clinical Medicine Research of National Clinical Research Center for Child Health and Disorders, Children’s Hospital of Chongqing Medical University

Publisher

Springer Science and Business Media LLC

Subject

Pediatrics, Perinatology and Child Health

Link

https://link.springer.com/content/pdf/10.1007/s12519-022-00652-z.pdf

Reference22 articles.

1. Li C, Li L, Yang M, Zeng L, Sun L. PACS-2: a key regulator of mitochondria-associated membranes (MAMs). Pharmacol Res. 2020;160:105080.

2. Wan L, Molloy SS, Thomas L, Liu G, Xiang Y, Rybak SL, et al. PACS-1 defines a novel gene family of cytosolic sorting proteins required for trans-Golgi network localization. Cell. 1998;94:205–16.

3. Simmen T, Aslan JE, Blagoveshchenskaya AD, Thomas L, Wan L, Xiang Y, et al. PACS-2 controls endoplasmic reticulum-mitochondria communication and Bid-mediated apoptosis. EMBO J. 2005;24:717–29.

4. Olson HE, Jean-Marçais N, Yang E, Heron D, Tatton-Brown K, van der Zwaag PA, et al. A recurrent de novo PACS2 heterozygous missense variant causes neonatal-onset developmental epileptic encephalopathy, facial dysmorphism, and cerebellar dysgenesis. Am J Hum Genet. 2018;102:995–1007.

5. Dentici ML, Barresi S, Niceta M, Ciolfi A, Trivisano M, Bartuli A, et al. Expanding the clinical spectrum associated with PACS2 mutations. Clin Genet. 2019;95:525–31.

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1. Characteristics of Developmental and Epileptic Encephalopathy Associated with PACS2 p.Glu209Lys Pathogenic Variant—Our Experience and Systematic Review of the Literature;Biomolecules;2024-02-23