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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1990 1
1993 2
1995 1
1996 2
2001 1
2003 1
2013 1
2017 1
2022 1
2023 2
2024 1

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PubMed for id: 554790412

10 results

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Page 1
CLN3 deficiency leads to neurological and metabolic perturbations during early development.
Heins-Marroquin U, Singh RR, Perathoner S, Gavotto F, Merino Ruiz C, Patraskaki M, Gomez-Giro G, Kleine Borgmann F, Meyer M, Carpentier A, Warmoes MO, Jäger C, Mittelbronn M, Schwamborn JC, Cordero-Maldonado ML, Crawford AD, Schymanski EL, Linster CL. Heins-Marroquin U, et al. Life Sci Alliance. 2024 Jan 9;7(3):e202302057. doi: 10.26508/lsa.202302057. Print 2024 Mar. Life Sci Alliance. 2024. PMID: 38195117 Free PMC article.
Loss of the batten disease protein CLN3 leads to mis-trafficking of M6PR and defective autophagic-lysosomal reformation.
Calcagni' A, Staiano L, Zampelli N, Minopoli N, Herz NJ, Di Tullio G, Huynh T, Monfregola J, Esposito A, Cirillo C, Bajic A, Zahabiyon M, Curnock R, Polishchuk E, Parkitny L, Medina DL, Pastore N, Cullen PJ, Parenti G, De Matteis MA, Grumati P, Ballabio A. Calcagni' A, et al. Nat Commun. 2023 Jul 3;14(1):3911. doi: 10.1038/s41467-023-39643-7. Nat Commun. 2023. PMID: 37400440 Free PMC article.
CLN3 is required for the clearance of glycerophosphodiesters from lysosomes.
Laqtom NN, Dong W, Medoh UN, Cangelosi AL, Dharamdasani V, Chan SH, Kunchok T, Lewis CA, Heinze I, Tang R, Grimm C, Dang Do AN, Porter FD, Ori A, Sabatini DM, Abu-Remaileh M. Laqtom NN, et al. Nature. 2022 Sep;609(7929):1005-1011. doi: 10.1038/s41586-022-05221-y. Epub 2022 Sep 21. Nature. 2022. PMID: 36131016 Free PMC article.
Neuronal Ceroid-Lipofuscinoses – RETIRED CHAPTER, FOR HISTORICAL REFERENCE ONLY.
Mole SE, Williams RE. Mole SE, et al. 2001 Oct 10 [updated 2013 Aug 1]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. 2001 Oct 10 [updated 2013 Aug 1]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. PMID: 20301601 Free Books & Documents. Review.
Hereditary Dystonia Overview.
Klein C, Lohmann K, Marras C, Münchau A. Klein C, et al. 2003 Oct 28 [updated 2017 Jun 22]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. 2003 Oct 28 [updated 2017 Jun 22]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. PMID: 20301334 Free Books & Documents. Review.