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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 …
Repurposing of tamoxifen ameliorates CLN3 and CLN7 disease phenotype.
Soldati C, Lopez-Fabuel I, Wanderlingh LG, Garcia-Macia M, Monfregola J, Esposito A, Napolitano G, Guevara-Ferrer M, Scotto Rosato A, Krogsaeter EK, Paquet D, Grimm CM, Montefusco S, Braulke T, Storch S, Mole SE, De Matteis MA, Ballabio A, Sampaio JL, McKay T, Johannes L, Bolaños JP, Medina DL. Soldati C, et al. EMBO Mol Med. 2021 Oct 7;13(10):e13742. doi: 10.15252/emmm.202013742. Epub 2021 Aug 19. EMBO Mol Med. 2021. PMID: 34411438 Free PMC article.
These data strongly suggest that tamoxifen may be a suitable drug to treat some types of Batten disease....
These data strongly suggest that tamoxifen may be a suitable drug to treat some types of Batten disease....
Neuronal ceroid lipofuscinosis: underlying mechanisms and emerging therapeutic targets.
Ziółkowska EA, Takahashi K, Dickson PI, Sardiello M, Sands MS, Cooper JD. Ziółkowska EA, et al. Nat Rev Neurol. 2025 Nov;21(11):606-622. doi: 10.1038/s41582-025-01132-4. Epub 2025 Sep 4. Nat Rev Neurol. 2025. PMID: 40908342 Free PMC article. Review.
The neuronal ceroid lipofuscinoses (NCLs), more commonly known as Batten disease, are a group of fatal inherited neurodegenerative lysosomal storage disorders. ...
The neuronal ceroid lipofuscinoses (NCLs), more commonly known as Batten disease, are a group of fatal inherited neurodegenera …
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 …
TPC2 rescues lysosomal storage in mucolipidosis type IV, Niemann-Pick type C1, and Batten disease.
Scotto Rosato A, Krogsaeter EK, Jaślan D, Abrahamian C, Montefusco S, Soldati C, Spix B, Pizzo MT, Grieco G, Böck J, Wyatt A, Wünkhaus D, Passon M, Stieglitz M, Keller M, Hermey G, Markmann S, Gruber-Schoffnegger D, Cotman S, Johannes L, Crusius D, Boehm U, Wahl-Schott C, Biel M, Bracher F, De Leonibus E, Polishchuk E, Medina DL, Paquet D, Grimm C. Scotto Rosato A, et al. EMBO Mol Med. 2022 Sep 7;14(9):e15377. doi: 10.15252/emmm.202115377. Epub 2022 Aug 5. EMBO Mol Med. 2022. PMID: 35929194 Free PMC article.
Rescue effects by TPC2 activation, which promotes lysosomal exocytosis and autophagy, were assessed in mucolipidosis type IV (MLIV), Niemann-Pick type C1, and Batten disease patient fibroblasts, and in neurons derived from newly generated isogenic human iPSC models …
Rescue effects by TPC2 activation, which promotes lysosomal exocytosis and autophagy, were assessed in mucolipidosis type IV (MLIV), Niemann …
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 …
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 …
Gait phenotype in Batten disease: A marker of disease progression.
Ostergaard JR. Ostergaard JR. Eur J Paediatr Neurol. 2021 Nov;35:1-7. doi: 10.1016/j.ejpn.2021.09.004. Epub 2021 Sep 14. Eur J Paediatr Neurol. 2021. PMID: 34547583 Free article. Review.
BACKGROUND: Gait impairment and its etiologic correlate has not previously been subject of special attention in Batten disease. METHODS: In the present review, the clinical picture of gait phenotype during Batten disease course accompanied by descripti …
BACKGROUND: Gait impairment and its etiologic correlate has not previously been subject of special attention in Batten disease …
Enzyme Replacement Therapy in CLN2-Associated Retinopathy.
Priglinger C, Courage C, Maier EM. Priglinger C, et al. Klin Monbl Augenheilkd. 2025 Mar;242(3):213-218. doi: 10.1055/a-2528-7886. Epub 2025 Mar 24. Klin Monbl Augenheilkd. 2025. PMID: 40127655 Free article. Review. English.
Neuronal ceroid lipofuscinoses, also known as Batten disease, are comprised of a group of genetically heterogenous neurodegenerative conditions, characterized by dementia, epilepsy, motor deterioration, and blindness. ...
Neuronal ceroid lipofuscinoses, also known as Batten disease, are comprised of a group of genetically heterogenous neurodegene …
85 results