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Page 1
Sex-split analysis of pathology and motor-behavioral outcomes in a mouse model of CLN8-Batten disease reveals an increased disease burden and trajectory in female Cln8(mnd) mice.
Holmes AD, White KA, Pratt MA, Johnson TB, Likhite S, Meyer K, Weimer JM. Holmes AD, et al. Orphanet J Rare Dis. 2022 Nov 11;17(1):411. doi: 10.1186/s13023-022-02564-7. Orphanet J Rare Dis. 2022. PMID: 36369162 Free PMC article.
BACKGROUND: CLN8-Batten disease (CLN8 disease) is a rare neurodegenerative disorder characterized phenotypically by progressive deterioration of motor and cognitive abilities, visual symptoms, epileptic seizures, and premature death. ...To determine th …
BACKGROUND: CLN8-Batten disease (CLN8 disease) is a rare neurodegenerative disorder characterized phenotypically …
Status dystonicus associated with CLN8 disease.
Yıldırım M, Köse E, Keçeli AM, Balasar Ö, Şimşek N. Yıldırım M, et al. Brain Dev. 2021 Apr;43(4):571-575. doi: 10.1016/j.braindev.2020.12.005. Epub 2020 Dec 24. Brain Dev. 2021. PMID: 33358637
BACKGROUND: Status dystonicus is an underdiagnosed condition, probably due to heterogeneous etiology, presentation and course. Herein, we report the first case of CLN8 disease in the literature presenting with status dystonicus who responded well to pharmacological …
BACKGROUND: Status dystonicus is an underdiagnosed condition, probably due to heterogeneous etiology, presentation and course. Herein, we re …
CLN8 disease caused by large genomic deletions.
Beesley C, Guerreiro RJ, Bras JT, Williams RE, Taratuto AL, Eltze C, Mole SE. Beesley C, et al. Mol Genet Genomic Med. 2016 Nov 23;5(1):85-91. doi: 10.1002/mgg3.263. eCollection 2017 Jan. Mol Genet Genomic Med. 2016. PMID: 28116333 Free PMC article.
BACKGROUND: The presence of deletions can complicate genetic diagnosis of autosomal recessive disease. METHOD: The DNA of patients was analyzed in a diagnostic setting. RESULTS: We present three unrelated patients each carrying deletions that encompass the 37 kb CLN8 …
BACKGROUND: The presence of deletions can complicate genetic diagnosis of autosomal recessive disease. METHOD: The DNA of patients wa …
Update of the mutation spectrum and clinical correlations of over 360 mutations in eight genes that underlie the neuronal ceroid lipofuscinoses.
Kousi M, Lehesjoki AE, Mole SE. Kousi M, et al. Hum Mutat. 2012 Jan;33(1):42-63. doi: 10.1002/humu.21624. Epub 2011 Nov 16. Hum Mutat. 2012. PMID: 21990111 Review.
Despite excessive in vitro and in vivo studies, the precise functions of the NCL proteins and the disease mechanisms remain elusive. To date 365 NCL-causing mutations are known, with 91 novel disease-causing mutations reported. ...For example, mutations in CLN5, CLN …
Despite excessive in vitro and in vivo studies, the precise functions of the NCL proteins and the disease mechanisms remain elusive. …
Congenital CLN8 disease of neuronal ceroid lipofuscinosis: a novel phenotype.
Pesaola F, Kohan R, Cismondi IA, Guelbert N, Pons P, Oller-Ramirez AM, Noher de Halac I. Pesaola F, et al. Rev Neurol. 2019 Feb 16;68(4):155-159. Rev Neurol. 2019. PMID: 30741402 English, Spanish.
INTRODUCTION: CLN8 disease is one of the thirteen recognized genetic types of neuronal ceroid lipofuscinosis, a group of neurodegenerative lysosomal storage disorders, most frequent in childhood. ...CONCLUSION: This case is the Latin American index for a new congeni …
INTRODUCTION: CLN8 disease is one of the thirteen recognized genetic types of neuronal ceroid lipofuscinosis, a group of neuro …
Targeting autophagy impairment improves the phenotype of a novel CLN8 zebrafish model.
Marchese M, Bernardi S, Ogi A, Licitra R, Silvi G, Mero S, Galatolo D, Gammaldi N, Doccini S, Ratto GM, Rapposelli S, Neuhauss SCF, Zang J, Rocchiccioli S, Michelucci E, Ceccherini E, Santorelli FM. Marchese M, et al. Neurobiol Dis. 2024 Jul;197:106536. doi: 10.1016/j.nbd.2024.106536. Epub 2024 May 17. Neurobiol Dis. 2024. PMID: 38763444 Free PMC article.
The present study aims to characterize the molecular pathways involved in CLN8 disease and, by pinpointing altered ones, to identify potential therapies. To bridge the gap between cell and mammalian models, we generated a new zebrafish model of CLN8 deficienc …
The present study aims to characterize the molecular pathways involved in CLN8 disease and, by pinpointing altered ones, to id …
TRAM-LAG1-CLN8 family proteins are acyltransferases regulating phospholipid composition.
Sheokand PK, James AM, Jenkins B, K Lysyganicz P, Lacabanne D, King MS, Kunji ERS, Siniossoglou S, Koulman A, Murphy MP, Petkevicius K. Sheokand PK, et al. Sci Adv. 2025 Feb 21;11(8):eadr3723. doi: 10.1126/sciadv.adr3723. Epub 2025 Feb 19. Sci Adv. 2025. PMID: 39970228 Free PMC article.
Furthermore, we establish that human TLCD protein CLN8, mutations of which cause fatal neurodegenerative Batten disease, is a lysophosphatidylglycerol acyltransferase. ...Our study unveils a family of acyltransferases integral to cellular membrane phospholipid homeo …
Furthermore, we establish that human TLCD protein CLN8, mutations of which cause fatal neurodegenerative Batten disease, is a …
AAV9 Gene Therapy Increases Lifespan and Treats Pathological and Behavioral Abnormalities in a Mouse Model of CLN8-Batten Disease.
Johnson TB, White KA, Brudvig JJ, Cain JT, Langin L, Pratt MA, Booth CD, Timm DJ, Davis SS, Meyerink B, Likhite S, Meyer K, Weimer JM. Johnson TB, et al. Mol Ther. 2021 Jan 6;29(1):162-175. doi: 10.1016/j.ymthe.2020.09.033. Epub 2020 Sep 24. Mol Ther. 2021. PMID: 33010819 Free PMC article.
CLN8 disease is a rare form of neuronal ceroid lipofuscinosis caused by biallelic mutations in the CLN8 gene, which encodes a transmembrane endoplasmic reticulum protein involved in trafficking of lysosomal enzymes. ...There are currently no treatments that c …
CLN8 disease is a rare form of neuronal ceroid lipofuscinosis caused by biallelic mutations in the CLN8 gene, which enc …
The neuronal ceroid lipofuscinosis-related protein CLN8 regulates endo-lysosomal dynamics and dendritic morphology.
Pesaola F, Quassollo G, Venier AC, De Paul AL, Noher I, Bisbal M. Pesaola F, et al. Biol Cell. 2021 Oct;113(10):419-437. doi: 10.1111/boc.202000016. Epub 2021 Jun 4. Biol Cell. 2021. PMID: 34021618
Defects in lysosomal proteins usually affect a large variety of processes and underlie many diseases, most of them with a strong neuronal impact. Mutations in the endoplasmic reticulum-resident CLN8 protein cause CLN8 disease. ...SIGNIFICANCE: This is, …
Defects in lysosomal proteins usually affect a large variety of processes and underlie many diseases, most of them with a strong neur …
2024 Scholars' Research Symposium Abstract: Sex-Split Analysis of Pathology and Motor-Behavioral Outcomes in a Mouse Model Of CLN8-Batten Disease.
Holmes A. Holmes A. S D Med. 2024 Sep;77(9):400. S D Med. 2024. PMID: 39820909
Mutations in CLN8 result in characteristic Batten disease symptoms and brain-wide pathology including accumulation of lysosomal storage material, gliosis, and neurodegeneration. Recent investigations of other subtypes of Batten disease (CLN1, CLN3, CLN6) have …
Mutations in CLN8 result in characteristic Batten disease symptoms and brain-wide pathology including accumulation of lysosoma …
120 results