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361 results

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Page 1
The lysosomal trafficking regulator "LYST": an 80-year traffic jam.
Turner ME, Che J, Mirhaidari GJM, Kennedy CC, Blum KM, Rajesh S, Zbinden JC, Breuer CK, Best CA, Barker JC. Turner ME, et al. Front Immunol. 2024 May 7;15:1404846. doi: 10.3389/fimmu.2024.1404846. eCollection 2024. Front Immunol. 2024. PMID: 38774881 Free PMC article. Review.
Mutations to the LYST gene result in Chediak-Higashi syndrome, an autosomal recessive immunodeficiency characterized by defective granule exocytosis, cytotoxicity, etc. Despite eight decades passing since its initial discovery, a comprehensive understanding of LYST' …
Mutations to the LYST gene result in Chediak-Higashi syndrome, an autosomal recessive immunodeficiency characterized by defective gra …
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 Free PMC article. Review.
Bi-allelic loss-of-function variants in LYST cause CHS. LYST encodes the lysosomal trafficking regulator, a highly conserved 429 kDa cytoplasmic protein with an unknown function. ...Using genomic DNA Sanger sequencing, we identified novel pathogenic LYST vari …
Bi-allelic loss-of-function variants in LYST cause CHS. LYST encodes the lysosomal trafficking regulator, a highly conserved 4 …
Pediatric hemophagocytic lymphohistiocytosis.
Canna SW, Marsh RA. Canna SW, et al. Blood. 2020 Apr 16;135(16):1332-1343. doi: 10.1182/blood.2019000936. Blood. 2020. PMID: 32107531 Free PMC article. Review.
Classic genetic diseases in which HLH is a typical and common manifestation include pathogenic changes in familial HLH genes (PRF1, UNC13D, STXBP2, and STX11), several granule/pigment abnormality genes (RAB27A, LYST, and AP3B1), X-linked lymphoproliferative disease genes ( …
Classic genetic diseases in which HLH is a typical and common manifestation include pathogenic changes in familial HLH genes (PRF1, UNC13D, …
Chediak-Higashi syndrome.
Talbert ML, Malicdan MCV, Introne WJ. Talbert ML, et al. Curr Opin Hematol. 2023 Jul 1;30(4):144-151. doi: 10.1097/MOH.0000000000000766. Epub 2023 Apr 25. Curr Opin Hematol. 2023. PMID: 37254856 Free PMC article. Review.
Mutations in the lysosomal trafficking regulator (LYST) gene were identified to be causative of Chediak-Higashi, but despite many analyses, there is little functional information about the LYST protein. ...SUMMARY: Despite CHS being a rare disease, investigation int …
Mutations in the lysosomal trafficking regulator (LYST) gene were identified to be causative of Chediak-Higashi, but despite many ana …
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 Free PMC article.
Moreover, how and why the loss of LYST function causes a lysosome phenotype in cells has not been elucidated. We report that the LYST-deficient human neuronal model exhibits lysosome depletion accompanied by hyperelongated tubules extruding from enlarged autolysosom …
Moreover, how and why the loss of LYST function causes a lysosome phenotype in cells has not been elucidated. We report that the L …
Deficiency in Lyst function leads to accumulation of secreted proteases and reduced retinal adhesion.
Ji X, Zhao L, Umapathy A, Fitzmaurice B, Wang J, Williams DS, Chang B, Naggert JK, Nishina PM. Ji X, et al. PLoS One. 2022 Mar 3;17(3):e0254469. doi: 10.1371/journal.pone.0254469. eCollection 2022. PLoS One. 2022. PMID: 35239671 Free PMC article.
Chediak-Higashi syndrome, caused by mutations in the Lysosome Trafficking Regulator (Lyst) gene, is a recessive hypopigmentation disorder characterized by albinism, neuropathies, neurodegeneration, and defective immune responses, with enlargement of lysosomes and lysosome- …
Chediak-Higashi syndrome, caused by mutations in the Lysosome Trafficking Regulator (Lyst) gene, is a recessive hypopigmentation diso …
The BEACH is hot: a LYST of emerging roles for BEACH-domain containing proteins in human disease.
Cullinane AR, Schäffer AA, Huizing M. Cullinane AR, et al. Traffic. 2013 Jul;14(7):749-66. doi: 10.1111/tra.12069. Epub 2013 Apr 24. Traffic. 2013. PMID: 23521701 Free PMC article. Review.
Recent studies found that mutations in individual BDCPs cause several human diseases. BDCP alterations affect lysosome size (LYST and NSMAF), apoptosis (NSMAF), autophagy (LYST, WDFY3, LRBA), granule size (LYST, NBEAL2, NBEA) or synapse formation (NBEA). ...
Recent studies found that mutations in individual BDCPs cause several human diseases. BDCP alterations affect lysosome size (LYST and …
A murine model lacking Lyst recapitulates Chediak-Higashi syndrome with an earlier-onset neurodegenerative phenotype.
Greene S, Talbert ML, Frost FG, Zerfas PM, Springer D, Noguchi A, Morimoto M, Maynard D, Garrett L, Elliot G, Traver M, Yarnell D, Leoyklang P, Burke JD, Nicoli ER, Gahl WA, Introne WJ, Malicdan MCV. Greene S, et al. Commun Biol. 2025 Jul 18;8(1):1064. doi: 10.1038/s42003-025-08482-1. Commun Biol. 2025. PMID: 40681653 Free PMC article.
Chediak-Higashi syndrome (CHS) is a rare, autosomal recessive disorder caused by pathogenic variants in the lysosomal trafficking regulator (LYST) gene and characterized by significant immunological and neurological impairment. ...Molecular analyses confirm LYST def …
Chediak-Higashi syndrome (CHS) is a rare, autosomal recessive disorder caused by pathogenic variants in the lysosomal trafficking regulator …
Mauve/LYST limits fusion of lysosome-related organelles and promotes centrosomal recruitment of microtubule nucleating proteins.
Lattao R, Rangone H, Llamazares S, Glover DM. Lattao R, et al. Dev Cell. 2021 Apr 5;56(7):1000-1013.e6. doi: 10.1016/j.devcel.2021.02.019. Epub 2021 Mar 15. Dev Cell. 2021. PMID: 33725482 Free PMC article.
Lysosome-related organelles (LROs) are endosomal compartments carrying tissue-specific proteins, which become enlarged in Chediak-Higashi syndrome (CHS) due to mutations in LYST. Here, we show that Drosophila Mauve, a counterpart of LYST, suppresses vesicle fusion e …
Lysosome-related organelles (LROs) are endosomal compartments carrying tissue-specific proteins, which become enlarged in Chediak-Higashi sy …
The yeast LYST homolog Bph1 is a Rab5 effector and prevents Atg8 lipidation at endosomes.
Vargas Duarte P, Hardenberg R, Mari M, Walter S, Reggiori F, Fröhlich F, González Montoro A, Ungermann C. Vargas Duarte P, et al. J Cell Sci. 2022 Apr 15;135(8):jcs259421. doi: 10.1242/jcs.259421. Epub 2022 Apr 28. J Cell Sci. 2022. PMID: 35343566
Chediak-Higashi syndrome is an autosomal, recessive disease, in which loss of the protein LYST causes defects in lysosomes and lysosome-related organelles. The molecular function of LYST, however, is largely unknown. ...Thus, our results contribute to the understand …
Chediak-Higashi syndrome is an autosomal, recessive disease, in which loss of the protein LYST causes defects in lysosomes and lysoso …
361 results