PubMed for id: 1130

Year	Number of Results
1980	2
1986	1
1987	1
1991	1
1993	1
1996	4
1997	3
1998	1
1999	1
2000	3
2002	5
2003	1
2004	1
2005	2
2006	2
2008	1
2009	2
2010	1
2011	2
2013	1
2014	5
2015	3
2016	2
2017	3
2018	3
2019	2
2020	2
2021	2
2022	6
2023	5
2024	2

1

Spectrum of LYST mutations in Chediak-Higashi syndrome: a report of novel variants and a comprehensive review of the literature.

Morimoto M, Nicoli ER, Kuptanon C, Roney JC, Serra-Vinardell J, Sharma P, Adams DR, Gallin JI, Holland SM, Rosenzweig SD, Barbot J, Ciccone C, Huizing M, Toro C, Gahl WA, Introne WJ, Malicdan MCV. Morimoto M, et al. J Med Genet. 2024 Feb 21;61(3):212-223. doi: 10.1136/jmg-2023-109420. J Med Genet. 2024. PMID: 37788905 Review.

2

LYST deficiency impairs autophagic lysosome reformation in neurons and alters lysosome number and size.

Serra-Vinardell J, Sandler MB, De Pace R, Manzella-Lapeira J, Cougnoux A, Keyvanfar K, Introne WJ, Brzostowski JA, Ward ME, Gahl WA, Sharma P, Malicdan MCV. Serra-Vinardell J, et al. Cell Mol Life Sci. 2023 Jan 28;80(2):53. doi: 10.1007/s00018-023-04695-x. Cell Mol Life Sci. 2023. PMID: 36707427

3

Chédiak-Higashi syndrome presenting as a hereditary spastic paraplegia.

Koh K, Tsuchiya M, Ishiura H, Shimazaki H, Nakamura T, Hara H, Suzuyama K, Takahashi M, Tsuji S, Takiyama Y; Japan Spastic Paraplegia Research Consortium. Koh K, et al. J Hum Genet. 2022 Feb;67(2):119-121. doi: 10.1038/s10038-021-00977-z. Epub 2021 Sep 6. J Hum Genet. 2022. PMID: 34483340

4

Identification of a compound heterozygote in LYST gene: a case report on Chediak-Higashi syndrome.

Song Y, Dong Z, Luo S, Yang J, Lu Y, Gao B, Fan T. Song Y, et al. BMC Med Genet. 2020 Jan 6;21(1):4. doi: 10.1186/s12881-019-0922-8. BMC Med Genet. 2020. PMID: 31906877 Free PMC article.

5

[A novel mutation of the LYST gene in a Chinese family with Chediak-Higashi syndrome].

Wang M, Qu LJ, Wang J, Chen TP, Li Y, Xu Z, Cheng J, Wang CJ, Gao S, Lu YJ. Wang M, et al. Zhonghua Er Ke Za Zhi. 2019 Dec 2;57(12):963-965. doi: 10.3760/cma.j.issn.0578-1310.2019.12.015. Zhonghua Er Ke Za Zhi. 2019. PMID: 31795567 Chinese.

6

[Analysis of clinical characteristics and genetic mutation in a pedigree affected with Chediak-Higashi syndrome].

Zhao J, Wang Z, Zhang L, Sun H, Yang Y. Zhao J, et al. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2018 Apr 10;35(2):188-192. doi: 10.3760/cma.j.issn.1003-9406.2018.02.009. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2018. PMID: 29652989 Chinese.

7

Chediak-Higashi syndrome: Lysosomal trafficking regulator domains regulate exocytosis of lytic granules but not cytokine secretion by natural killer cells.

Gil-Krzewska A, Wood SM, Murakami Y, Nguyen V, Chiang SCC, Cullinane AR, Peruzzi G, Gahl WA, Coligan JE, Introne WJ, Bryceson YT, Krzewski K. Gil-Krzewska A, et al. J Allergy Clin Immunol. 2016 Apr;137(4):1165-1177. doi: 10.1016/j.jaci.2015.08.039. Epub 2015 Oct 21. J Allergy Clin Immunol. 2016. PMID: 26478006 Free PMC article.

8

LYST controls the biogenesis of the endosomal compartment required for secretory lysosome function.

Sepulveda FE, Burgess A, Heiligenstein X, Goudin N, Ménager MM, Romao M, Côte M, Mahlaoui N, Fischer A, Raposo G, Ménasché G, de Saint Basile G. Sepulveda FE, et al. Traffic. 2015 Feb;16(2):191-203. doi: 10.1111/tra.12244. Epub 2015 Jan 6. Traffic. 2015. PMID: 25425525 Free article.

9

LYST affects lysosome size and quantity, but not trafficking or degradation through autophagy or endocytosis.

Holland P, Torgersen ML, Sandvig K, Simonsen A. Holland P, et al. Traffic. 2014 Dec;15(12):1390-405. doi: 10.1111/tra.12227. Epub 2014 Oct 8. Traffic. 2014. PMID: 25216107 Free article.

10

Autosomal-recessive complicated spastic paraplegia with a novel lysosomal trafficking regulator gene mutation.

Shimazaki H, Honda J, Naoi T, Namekawa M, Nakano I, Yazaki M, Nakamura K, Yoshida K, Ikeda S, Ishiura H, Fukuda Y, Takahashi Y, Goto J, Tsuji S, Takiyama Y. Shimazaki H, et al. J Neurol Neurosurg Psychiatry. 2014 Sep;85(9):1024-8. doi: 10.1136/jnnp-2013-306981. Epub 2014 Feb 12. J Neurol Neurosurg Psychiatry. 2014. PMID: 24521565

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