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Rapid Communication | Open Access

The mucolipidosis Ⅲ-causing mutation in GNPTAB, c.1760G>C, disrupts the development of somites in rats

Tianying Nonga,1Jiangui Lib,1Xia Lia,1Yiqiang LibZhaohui LiaWeizhe ShibQiuchan ZhouaHongwen Xub( )Mingwei Zhua( )Ya-Ping Tanga( )
Guangzhou Institute of Pediatrics, Guangzhou Women and Children’s Medical Center, Guangzhou Medical University, Guangdong Provincial Clinical Research Center for Child Health, Guangzhou, Guangdong 510623, China
Department of Pediatric Orthopedics, Guangzhou Women and Children’s Medical Center, Guangdong Provincial Clinical Research Center for Child Health, Guangzhou, Guangdong 510623, China

1 These authors contributed equally to this work.

Peer review under responsibility of Chongqing Medical University.

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References

1

Dogterom EJ, Wagenmakers MAEM, Wilke M, et al. Mucolipidosis type Ⅱ and type Ⅲ: a systematic review of 843 published cases. Genet Med. 2021;23(11):2047–2056.

2

Velho RV, Harms FL, Danyukova T, et al. The lysosomal storage disorders mucolipidosis type Ⅱ, type Ⅲ alpha/beta, and type Ⅲ gamma: update on GNPTAB and GNPTG mutations. Hum Mutat. 2019;40(7):842–864.

3

De Pace R, Velho RV, Encarnação M, Marschner K, Braulke T, Pohl S. Subunit interactions of the disease-related hexameric GlcNAc-1-phosphotransferase complex. Hum Mol Genet. 2015;24(23):6826–6835.

4

Lam CW, Yan MS, Li CK, Lau KC, Tong SF, Tang HY. DNA-based diagnosis of mucolipidosis type IIIA and mucopolysacchariodisis type Ⅵ in a Chinese family: a chance of 1 in 7.6 trillion. Clin Chim Acta. 2007;376(1–2):250–252.

5

Paton L, Bitoun E, Kenyon J, et al. A novel mouse model of a patient mucolipidosis Ⅱ mutation recapitulates disease pathology. J Biol Chem. 2014;289(39):26709–26721.

Genes & Diseases
Article number: 101172
Cite this article:
Nong T, Li J, Li X, et al. The mucolipidosis Ⅲ-causing mutation in GNPTAB, c.1760G>C, disrupts the development of somites in rats. Genes & Diseases, 2024, 11(6): 101172. https://doi.org/10.1016/j.gendis.2023.101172

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Received: 21 July 2023
Published: 17 November 2023
© 2023 The Authors.

This is an open access article under the CC BY license (http://creativecommons.org/licenses/by/4.0/).

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