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The Batten disease gene product CLN5 is the lysosomal bis(monoacylglycero)phosphate synthase.
Medoh UN, Hims A, Chen JY, Ghoochani A, Nyame K, Dong W, Abu-Remaileh M. Medoh UN, et al. Science. 2023 Sep 15;381(6663):1182-1189. doi: 10.1126/science.adg9288. Epub 2023 Sep 14. Science. 2023. PMID: 37708259
However, the site and mechanism responsible for BMP synthesis have been subject to debate for decades. Here, we report that the Batten disease gene product CLN5 is the elusive BMP synthase (BMPS). BMPS-deficient cells exhibited a massive accumulation of the BMP synt …
However, the site and mechanism responsible for BMP synthesis have been subject to debate for decades. Here, we report that the Batten …
Glycerophosphodiesters inhibit lysosomal phospholipid catabolism in Batten disease.
Nyame K, Hims A, Aburous A, Laqtom NN, Dong W, Medoh UN, Heiby JC, Xiong J, Ori A, Abu-Remaileh M. Nyame K, et al. Mol Cell. 2024 Apr 4;84(7):1354-1364.e9. doi: 10.1016/j.molcel.2024.02.006. Epub 2024 Mar 5. Mol Cell. 2024. PMID: 38447580 Free PMC article.
Batten disease, the most prevalent form of neurodegeneration in children, is caused by mutations in the CLN3 gene, which encodes a lysosomal transmembrane protein. ...Our work establishes that the storage material in Batten disease directly disrupts ly …
Batten disease, the most prevalent form of neurodegeneration in children, is caused by mutations in the CLN3 gene, which encod …
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.
Batten disease, one of the most devastating types of neurodegenerative lysosomal storage disorders, is caused by mutations in CLN3. ...Together, our findings reveal that CLN3 functions as a link between the M6P-dependent trafficking of lysosomal enzymes and lysosoma …
Batten disease, one of the most devastating types of neurodegenerative lysosomal storage disorders, is caused by mutations in …
Special edition: The NCLs/Batten disease.
Rahim AA, Russell C, Mole SE. Rahim AA, et al. Biochim Biophys Acta Mol Basis Dis. 2020 Sep 1;1866(9):165824. doi: 10.1016/j.bbadis.2020.165824. Epub 2020 May 5. Biochim Biophys Acta Mol Basis Dis. 2020. PMID: 32387426 Free article. No abstract available.
Cellular models of Batten disease.
Minnis CJ, Thornton CD, FitzPatrick LM, McKay TR. Minnis CJ, et al. Biochim Biophys Acta Mol Basis Dis. 2020 Sep 1;1866(9):165559. doi: 10.1016/j.bbadis.2019.165559. Epub 2019 Oct 23. Biochim Biophys Acta Mol Basis Dis. 2020. PMID: 31655107 Free PMC article. Review.
The Neuronal Ceroid Lipofuscinoses (NCL), otherwise known as Batten disease, are a group of neurodegenerative diseases caused by mutations in 13 known genes. ...
The Neuronal Ceroid Lipofuscinoses (NCL), otherwise known as Batten disease, are a group of neurodegenerative diseases caused …
Pharmacological approaches to tackle NCLs.
Kauss V, Dambrova M, Medina DL. Kauss V, et al. Biochim Biophys Acta Mol Basis Dis. 2020 Sep 1;1866(9):165553. doi: 10.1016/j.bbadis.2019.165553. Epub 2019 Sep 12. Biochim Biophys Acta Mol Basis Dis. 2020. PMID: 31521819 Free article. Review.
Neuronal ceroid lipofuscinoses, also collectively known as Batten disease, are a group of rare monogenic disorders caused by mutations in at least 13 different genes. ...These approaches are particularly useful for drug repurposing for Batten disease, …
Neuronal ceroid lipofuscinoses, also collectively known as Batten disease, are a group of rare monogenic disorders caused by m …
Altered protein secretion in Batten disease.
Huber RJ. Huber RJ. Dis Model Mech. 2021 Dec 1;14(12):dmm049152. doi: 10.1242/dmm.049152. Epub 2021 Dec 6. Dis Model Mech. 2021. PMID: 34870700 Free PMC article. Review.
The neuronal ceroid lipofuscinoses (NCLs), collectively known as Batten disease, are a group of neurological diseases that affect all ages and ethnicities worldwide. ...
The neuronal ceroid lipofuscinoses (NCLs), collectively known as Batten disease, are a group of neurological diseases that aff …
Batten disease through different in vivo and in vitro models: A review.
Nittari G, Tomassoni D, Roy P, Martinelli I, Tayebati SK, Amenta F. Nittari G, et al. J Neurosci Res. 2023 Mar;101(3):298-315. doi: 10.1002/jnr.25147. Epub 2022 Nov 26. J Neurosci Res. 2023. PMID: 36434776 Review.
Batten disease consists of a family of primarily autosomal recessive, progressive neuropediatric disorders, also known as neuronal ceroid lipofuscinoses (NCLs). ...The collection and sharing of suitable human bio samples likely through biobanks can contribute to a b …
Batten disease consists of a family of primarily autosomal recessive, progressive neuropediatric disorders, also known as neur …
Experimental gene therapies for the NCLs.
Liu W, Kleine-Holthaus SM, Herranz-Martin S, Aristorena M, Mole SE, Smith AJ, Ali RR, Rahim AA. Liu W, et al. Biochim Biophys Acta Mol Basis Dis. 2020 Sep 1;1866(9):165772. doi: 10.1016/j.bbadis.2020.165772. Epub 2020 Mar 24. Biochim Biophys Acta Mol Basis Dis. 2020. PMID: 32220628 Free article. Review.
The neuronal ceroid lipofuscinoses (NCLs), also known as Batten disease, are a group of rare monogenic neurodegenerative diseases predominantly affecting children. ...
The neuronal ceroid lipofuscinoses (NCLs), also known as Batten disease, are a group of rare monogenic neurodegenerative disea …
95 results