Research graph
References from Gene therapy in neuronal ceroid lipofuscinosis (NCL). Local targets link to admitted publications; unresolved targets remain external evidence.
Efficacy of phosphodiesterase-4 inhibitors in juvenile Batten disease (CLN3)
10.1002/ana.24815 · 2016 · External reference
Progranulin gene therapy improves lysosomal dysfunction and microglial pathology associated with frontotemporal dementia and neuronal ceroid lipofuscinosis
10.1523/jneurosci.3081-17.2018 · 2018 · External reference
Cerliponase alfa for CLN2 disease, a promising therapy
10.1080/21678707.2020.1856654 · 2020 · External reference
CLN8 Mutations presenting with a phenotypic continuum of neuronal ceroid lipofuscinosis—literature review and case report
10.3390/genes12070956 · 2021 · External reference
Two compound heterozygous variants in the CLN8 gene are responsible for neuronal cereidolipofuscinoses disorder in a child: a case report
10.3389/fped.2024.1379254 · 2024 · External reference
Experimental therapeutic approaches for the treatment of retinal pathology in neuronal ceroid lipofuscinoses
10.3389/fneur.2022.866983 · 2022 · External reference
A lysosomal enigma CLN5 and its significance in understanding neuronal ceroid lipofuscinosis
10.1007/s00018-021-03813-x · 2021 · External reference
Deciphering the role of microglia in kufs disease/CLN4: insights from transgenic mouse models expressing mutant forms of CSPΑ/DNAJC5
10.1016/j.ibneur.2023.08.346 · 2023 · External reference
Self-complementary AAV9 gene delivery partially corrects pathology associated with juvenile neuronal ceroid lipofuscinosis (CLN3)
10.1523/jneurosci.1635-16.2016 · 2016 · External reference
Mutation of the parkinsonism gene ATP13A2 causes neuronal ceroid-lipofuscinosis
10.1093/hmg/dds089 · 2012 · External reference
Oxidative stress and neurodegeneration: the yeast model system
10.2741/4171 · 2013 · External reference
Case report: the window that closed too soon: lessons from a late CLN2 diagnosis and death of a 9-year-old boy
10.3389/fgene.2025.1622185 · 2025 · External reference
Moving towards a new era of genomics in the neuronal ceroid lipofuscinoses
10.1016/j.bbadis.2019.165571 · 2020 · External reference
Gene therapy approaches for lysosomal storage disease: next-generation treatment
10.1089/hum.2012.140 · 2012 · External reference
Expressing transgenes that exceed the packaging capacity of adeno-associated virus capsids
10.1089/hgtb.2015.140 · 2016 · External reference
Immunogenicity to cerliponase alfa intracerebroventricular enzyme replacement therapy for CLN2 disease: results from a Phase 1/2 study
10.1016/j.clim.2018.09.003 · 2018 · External reference
The juvenile Batten disease protein, CLN3, and its role in regulating anterograde and retrograde post-Golgi trafficking
10.2217/clp.11.70 · 2012 · External reference
Early infantile neuronal ceroid lipofuscinosis (CLN10 disease) associated with a novel mutation in CTSD
10.1007/s00415-016-8111-6 · 2016 · External reference
Progress in gene and cell therapies for the neuronal ceroid lipofuscinoses
10.1080/14712598.2018.1492544 · 2018 · External reference
A truncating mutation in ATP13A2 is responsible for adult-onset neuronal ceroid lipofuscinosis in Tibetan terriers
10.1016/j.nbd.2011.02.009 · 2011 · External reference
Mammalian cyclic nucleotide phosphodiesterases: molecular mechanisms and physiological functions
10.1152/physrev.00030.2010 · 2011 · External reference
Identification of compound heterozygous mutations in GNPTG in three siblings of a Chinese family with mucolipidosis type III gamma
10.1016/j.ymgme.2010.09.007 · 2011 · External reference
Enzyme replacement therapy for CLN2 disease: MRI volumetry shows significantly slower volume loss compared with a natural history cohort
10.3174/ajnr.a8408 · 2024 · External reference
Gemfibrozil and fenofibrate, food and drug administration-approved lipid-lowering drugs, up-regulate tripeptidyl-peptidase 1 in brain cells via peroxisome proliferator-activated receptor α: implications for late infantile batten disease therapy
10.1074/jbc.m112.365148 · 2012 · External reference
Adeno-associated virus 2-mediated gene therapy decreases autofluorescent storage material and increases brain mass in a murine model of infantile neuronal ceroid lipofuscinosis
10.1016/j.nbd.2004.03.005 · 2004 · External reference
The neuronal ceroid lipofuscinoses: a case-based overview
10.1055/s-0036-1582222 · 2016 · External reference
Immune cells perturb axons and impair neuronal survival in a mouse model of infantile neuronal ceroid lipofuscinosis
10.1093/brain/awt020 · 2013 · External reference
The neuronal ceroid-lipofuscinoses
10.1093/jnen/62.1.1 · 2003 · External reference
NCL Disorders: common causes of dementia in children: a case report
2023 · External reference
Adult-onset neuronal ceroid lipofuscinosis misdiagnosed as autoimmune encephalitis and normal-pressure hydrocephalus: a 10-year case report and case-based review
10.1097/md.0000000000040248 · 2024 · External reference
Homozygous GRN mutations: new phenotypes and new insights into pathological and molecular mechanisms
10.1093/brain/awz377 · 2020 · External reference
Characteristics of PPT1 and TPP1 enzymes in neuronal ceroid lipofuscinosis (NCL) 1 and 2 by dried blood spots (DBS) and leukocytes and their application to newborn screening
10.1016/j.ymgme.2018.03.007 · 2018 · External reference
Neuronal ceroid lipofuscinoses
10.1016/j.bbamcr.2008.11.004 · 2009 · External reference
Sustained neural stem cell-based intraocular delivery of CNTF attenuates photoreceptor loss in the nclf mouse model of neuronal ceroid lipofuscinosis
10.1371/journal.pone.0127204 · 2015 · External reference
Current and future prospects for gene therapy for rare genetic diseases affecting the brain and spinal cord
10.3389/fnmol.2021.695937 · 2021 · External reference
Novel gene variations in early-onset frontotemporal dementia with positive family history of neural ceroid lipofuscinosis-1
10.1212/cpj.0000000000000134 · 2015 · External reference
Early postnatal administration of an AAV9 gene therapy is safe and efficacious in CLN3 disease
10.3389/fgene.2023.1118649 · 2023 · External reference
Inhibitory effect of curcumin on nitric oxide production from lipopolysaccharide-activated primary microglia
10.1016/j.lfs.2006.06.048 · 2006 · External reference
The molecular biology of memory: CAMP, PKA, CRE, CREB-1, CREB-2, and CPEB
10.1186/1756-6606-5-14 · 2012 · External reference
Extraneuronal pathology in a canine model of CLN2 neuronal ceroid lipofuscinosis after intracerebroventricular gene therapy that delays neurological disease progression
10.1038/gt.2017.4 · 2017 · External reference
AAV gene transfer delays disease onset in a TPP1-deficient canine model of the late infantile form of Batten disease
10.1126/scitranslmed.aac6191 · 2015 · External reference
Neuronal ceroid lipofuscinoses type 7 (CLN7): a case series reporting cross sectional and retrospective clinical data to evaluate validity of standardized tools to assess disease progression, quality of life, and adaptive skills
10.1186/s13023-024-03448-8 · 2024 · External reference
Ischemic optic neuropathy as a model of neurodegenerative disorder: a review of pathogenic mechanism of axonal degeneration and the role of neuroprotection
10.1016/j.jns.2016.12.044 · 2017 · External reference
Patient-customized oligonucleotide therapy for a rare genetic disease
10.1056/nejmoa1813279 · 2019 · External reference
Palmitoyl protein thioesterase-1 deficiency impairs synaptic vesicle recycling at nerve terminals, contributing to neuropathology in humans and mice
10.1172/jci33482 · 2008 · External reference
Current status and challenges associated with CNS-targeted gene delivery across the BBB
10.3390/pharmaceutics12121216 · 2020 · External reference
Gene therapy targeting the inner retina rescues the retinal phenotype in a mouse model of CLN3 batten disease
10.1089/hum.2020.038 · 2020 · External reference
Prevention of photoreceptor cell loss in a Cln6nclf mouse model of batten disease requires CLN6 gene transfer to bipolar cells
10.1016/j.ymthe.2018.02.027 · 2018 · External reference
Neuronal ceroid lipofuscinosis type CLN2: a new rationale for the construction of phenotypic subgroups based on a survey of 25 cases in South America
10.1016/j.gene.2012.12.058 · 2013 · External reference
Ethical issues in care and treatment of neuronal ceroid lipofuscinoses (NCL)–a personal view
10.3389/fneur.2021.692527 · 2021 · External reference
Current and emerging treatment strategies for neuronal ceroid lipofuscinoses
10.1007/s40263-019-00620-8 · 2019 · External reference
Mutations in CLN7/MFSD8 are a common cause of variant late-infantile neuronal ceroid lipofuscinosis
10.1093/brain/awn366 · 2009 · External reference
Age-dependent therapeutic effect of memantine in a mouse model of juvenile Batten disease
10.1016/j.neuropharm.2012.05.040 · 2012 · External reference
Temporary inhibition of AMPA receptors induces a prolonged improvement of motor performance in a mouse model of juvenile Batten disease
10.1016/j.neuropharm.2010.10.010 · 2011 · External reference
Motor function impairment is an early sign of CLN3 disease
10.1212/wnl.0000000000007773 · 2019 · External reference
Oral cysteamine bitartrate and N-acetylcysteine for patients with infantile neuronal ceroid lipofuscinosis: a pilot study
10.1016/s1474-4422(14)70142-5 · 2014 · External reference
Synergistic effects of central nervous system-directed gene therapy and bone marrow transplantation in the murine model of infantile neuronal ceroid lipofuscinosis
10.1002/ana.23545 · 2012 · External reference
Adult-onset neuronal ceroid lipofuscinosis: CLN5 variant presenting as focal dystonia
10.5334/tohm.941 · 2024 · External reference
Diagnostic methods and emerging treatments for adult neuronal ceroid lipofuscinoses (Kufs disease)
10.1080/21678707.2017.1325359 · 2017 · External reference
Delivery systems for gene therapy
10.4103/0971-6866.112870 · 2013 · External reference
Cerliponase alfa: first global approval
10.1007/s40265-017-0771-8 · 2017 · External reference
Unresolved reference
1999 · External reference
Neuronal ceroid lipofuscinosis across species: a fatal hereditary neurodegenerative disease
10.9734/bpi/aodhr/v1/5314 · 2025 · External reference
Neuronal ceroid lipofuscinosis 11 (CLN11) presenting with early-onset cone-rod dystrophy and learning difficulties
10.1007/s10048-025-00800-3 · 2025 · External reference
KCTD7 deficiency defines a distinct neurodegenerative disorder with a conserved autophagy-lysosome defect
10.1002/ana.25351 · 2018 · External reference
Embryonic stem cell-derived neural progenitors incorporate into degenerating retina and enhance survival of host photoreceptors
10.1634/stemcells.2005-0059 · 2006 · External reference
Immune responses to AAV vectors: overcoming barriers to successful gene therapy
10.1182/blood-2013-01-306647 · 2013 · External reference
Classification and natural history of the neuronal ceroid lipofuscinoses
10.1177/0883073813494268 · 2013 · External reference
Progressive retinal degeneration and glial activation in the CLN6nclf mouse model of neuronal ceroid lipofuscinosis: a beneficial effect of DHA and curcumin supplementation
10.1371/journal.pone.0075963 · 2013 · External reference
Longitudinal in vivo monitoring of the CNS demonstrates the efficacy of gene therapy in a sheep model of CLN5 Batten disease
10.1016/j.ymthe.2018.07.015 · 2018 · External reference
Turkish variant late infantile neuronal ceroid lipofuscinosis (CLN7) may be allelic to CLN8
10.1053/ejpn.2000.0429 · 2001 · External reference
Unresolved reference
2020 · External reference
Clinical challenges and future therapeutic approaches for neuronal ceroid lipofuscinosis
10.1016/s1474-4422(18)30368-5 · 2019 · External reference
Evidence of the impact of CLN2 and CLN3 Batten disease on families in the United Kingdom
10.1186/s13023-025-03747-8 · 2025 · External reference
Disease characteristics and progression in patients with late-infantile neuronal ceroid lipofuscinosis type 2 (CLN2) disease: an observational cohort study
10.1016/s2352-4642(18)30179-2 · 2018 · External reference
A novel CLN6 variant associated with juvenile neuronal ceroid lipofuscinosis in patients with absence of visual loss as a presenting feature
10.3389/fgene.2021.746101 · 2021 · External reference
Neuronal ceroid lipofuscinoses
10.1684/epd.2016.0844 · 2016 · External reference
Characterization of the CLEAR network reveals an integrated control of cellular clearance pathways
10.1093/hmg/ddr306 · 2011 · External reference
MTORC1-independent TFEB activation via Akt inhibition promotes cellular clearance in neurodegenerative storage diseases
2017 · External reference
Pathogenic effects of novel mutations in the P-type ATPase ATP13A2 (PARK9) causing Kufor-Rakeb syndrome, a form of early-onset parkinsonism
10.1002/humu.21527 · 2011 · External reference
An innovative hematopoietic stem cell gene therapy approach benefits CLN1 disease in the mouse model
10.15252/emmm.202215968 · 2023 · External reference
A computational approach to analyzing the functional and structural impacts of Tripeptidyl-Peptidase 1 missense mutations in neuronal ceroid lipofuscinosis
10.1007/s11011-024-01341-8 · 2024 · External reference
Case Report: novel MFSD8 Variants in a Chinese Family With Neuronal Ceroid Lipofuscinoses 7
10.3389/fgene.2022.807515 · 2022 · External reference
Human NCL neuropathology
10.1016/j.bbadis.2015.05.007 · 2015 · External reference
Northern epilepsy, a new member of the NCL family
10.1007/s100720070039 · 2000 · External reference
Combination small molecule PPT1 mimetic and CNS-directed gene therapy as a treatment for infantile neuronal ceroid lipofuscinosis
10.1007/s10545-011-9446-x · 2012 · External reference
Advances in the treatment of neuronal ceroid lipofuscinosis
10.1080/21678707.2019.1684258 · 2019 · External reference
Clinical and genetic characterization of a cohort of 97 CLN6 patients tested at a single center
10.1186/s13023-022-02288-8 · 2022 · External reference
AAV-mediated gene therapy for research and therapeutic purposes
10.1146/annurev-virology-031413-085355 · 2014 · External reference
A gene network regulating lysosomal biogenesis and function
10.1126/science.1174447 · 2009 · External reference
Neuroprotection and lifespan extension in Ppt1-/- mice by NtBuHA: therapeutic implications for INCL
10.1038/nn.3526 · 2013 · External reference
Study of Intraventricular Cerliponase Alfa for CLN2 disease
10.1056/nejmoa1712649 · 2018 · External reference
Impaired cell adhesion and apoptosis in a novel CLN9 Batten disease variant
10.1002/ana.20187 · 2004 · External reference
NCL diseases—clinical perspectives
10.1016/j.bbadis.2013.04.008 · 2013 · External reference
Safety and efficacy of cerliponase alfa in children with neuronal ceroid lipofuscinosis type 2 (CLN2 disease): an open-label extension study
10.1016/s1474-4422(23)00384-8 · 2024 · External reference
Immunosuppression alters disease severity in juvenile Batten disease mice
10.1016/j.jneuroim.2010.08.024 · 2011 · External reference
TFEB links autophagy to lysosomal biogenesis
10.1126/science.1204592 · 2011 · External reference
Implications of AAV serotypes in neurological disorders: current clinical applications and challenges
10.3390/ctn9030032 · 2025 · External reference
CNS-Expressed cathepsin D prevents lymphopenia in a murine model of congenital neuronal ceroid lipofuscinosis
10.2353/ajpath.2010.091267 · 2010 · External reference
Synergistic effects of treating the spinal cord and brain in CLN1 disease
10.1073/pnas.1701832114 · 2017 · External reference
Unresolved reference
2025 · External reference
Long-term expression and safety of administration of AAVrh.10hCLN2 to the brain of rats and nonhuman primates for the treatment of late infantile neuronal ceroid lipofuscinosis
10.1089/hgtb.2012.120 · 2012 · External reference
Partial correction of the CNS lysosomal storage defect in a mouse model of juvenile neuronal ceroid lipofuscinosis by neonatal CNS administration of an adeno-associated virus serotype rh.10 vector expressing the human CLN3 Gene
10.1089/hum.2012.253 · 2014 · External reference
Neuronal ceroid lipofuscinosis: potential for targeted therapy
10.1007/s40265-020-01440-7 · 2021 · External reference
A homozygous mutation in KCTD7 links neuronal ceroid lipofuscinosis to the ubiquitin-proteasome system
10.1016/j.ajhg.2012.05.023 · 2012 · External reference
Glial dysfunction and its contribution to the pathogenesis of the neuronal ceroid lipofuscinoses
10.3389/fneur.2022.886567 · 2022 · External reference
Systemic AAVrh10 provides higher transgene expression than AAV9 in the brain and the spinal cord of neonatal mice
2015 · External reference
Unresolved reference
External reference
Disorders of sphingolipid synthesis, sphingolipidoses, niemann-pick disease type c and neuronal ceroid lipofuscinoses
2022 · External reference
Adeno-associated virus vector as a platform for gene therapy delivery
10.1038/s41573-019-0012-9 · 2019 · External reference
Adeno-associated virus as a delivery vector for gene therapy of human diseases
2024 · External reference
Lysosomal storage diseases: diagnostic confirmation and management of presymptomatic individuals
10.1097/gim.0b013e318211a7e1 · 2011 · External reference
Adeno-associated virus (AAV) gene therapy for neurological disease
10.1016/j.neuropharm.2012.03.004 · 2013 · External reference
New nomenclature and classification scheme for the neuronal ceroid lipofuscinoses
10.1212/wnl.0b013e31825f0547 · 2012 · External reference
Neuronal ceroid lipofuscinosis—concepts, classification, and avenues for therapy
10.1111/cns.70261 · 2025 · External reference
Lysosomal ceroid depletion by drugs: therapeutic implications for a hereditary neurodegenerative disease of childhood
10.1038/86554 · 2001 · External reference
Neuronal ceroid lipofuscinosis: underlying mechanisms and emerging therapeutic targets
10.1038/s41582-025-01132-4 · 2025 · External reference
Adeno-associated virus vectors: principles, practices, and prospects in gene therapy
10.3390/v17020239 · 2025 · External reference
Impaired cell adhesion and apoptosis in a novel CLN9 Batten disease variant
10.1002/ana.20187 · ExternalCitation · doi-reference
Synergistic effects of central nervous system-directed gene therapy and bone marrow transplantation in the murine model of infantile neuronal ceroid lipofuscinosis
10.1002/ana.23545 · ExternalCitation · doi-reference
Efficacy of phosphodiesterase-4 inhibitors in juvenile Batten disease (CLN3)
10.1002/ana.24815 · ExternalCitation · doi-reference
KCTD7 deficiency defines a distinct neurodegenerative disorder with a conserved autophagy-lysosome defect
10.1002/ana.25351 · ExternalCitation · doi-reference
Pathogenic effects of novel mutations in the P-type ATPase ATP13A2 (PARK9) causing Kufor-Rakeb syndrome, a form of early-onset parkinsonism
10.1002/humu.21527 · ExternalCitation · doi-reference
A lysosomal enigma CLN5 and its significance in understanding neuronal ceroid lipofuscinosis
10.1007/s00018-021-03813-x · ExternalCitation · doi-reference
Early infantile neuronal ceroid lipofuscinosis (CLN10 disease) associated with a novel mutation in CTSD
10.1007/s00415-016-8111-6 · ExternalCitation · doi-reference
Neuronal ceroid lipofuscinosis 11 (CLN11) presenting with early-onset cone-rod dystrophy and learning difficulties
10.1007/s10048-025-00800-3 · ExternalCitation · doi-reference
Northern epilepsy, a new member of the NCL family
10.1007/s100720070039 · ExternalCitation · doi-reference
Combination small molecule PPT1 mimetic and CNS-directed gene therapy as a treatment for infantile neuronal ceroid lipofuscinosis
10.1007/s10545-011-9446-x · ExternalCitation · doi-reference
A computational approach to analyzing the functional and structural impacts of Tripeptidyl-Peptidase 1 missense mutations in neuronal ceroid lipofuscinosis
10.1007/s11011-024-01341-8 · ExternalCitation · doi-reference
Current and emerging treatment strategies for neuronal ceroid lipofuscinoses
10.1007/s40263-019-00620-8 · ExternalCitation · doi-reference
Cerliponase alfa: first global approval
10.1007/s40265-017-0771-8 · ExternalCitation · doi-reference
Neuronal ceroid lipofuscinosis: potential for targeted therapy
10.1007/s40265-020-01440-7 · ExternalCitation · doi-reference
A homozygous mutation in KCTD7 links neuronal ceroid lipofuscinosis to the ubiquitin-proteasome system
10.1016/j.ajhg.2012.05.023 · ExternalCitation · doi-reference
NCL diseases—clinical perspectives
10.1016/j.bbadis.2013.04.008 · ExternalCitation · doi-reference
Human NCL neuropathology
10.1016/j.bbadis.2015.05.007 · ExternalCitation · doi-reference
Moving towards a new era of genomics in the neuronal ceroid lipofuscinoses
10.1016/j.bbadis.2019.165571 · ExternalCitation · doi-reference
Neuronal ceroid lipofuscinoses
10.1016/j.bbamcr.2008.11.004 · ExternalCitation · doi-reference
Immunogenicity to cerliponase alfa intracerebroventricular enzyme replacement therapy for CLN2 disease: results from a Phase 1/2 study
10.1016/j.clim.2018.09.003 · ExternalCitation · doi-reference
Neuronal ceroid lipofuscinosis type CLN2: a new rationale for the construction of phenotypic subgroups based on a survey of 25 cases in South America
10.1016/j.gene.2012.12.058 · ExternalCitation · doi-reference
Deciphering the role of microglia in kufs disease/CLN4: insights from transgenic mouse models expressing mutant forms of CSPΑ/DNAJC5
10.1016/j.ibneur.2023.08.346 · ExternalCitation · doi-reference
Immunosuppression alters disease severity in juvenile Batten disease mice
10.1016/j.jneuroim.2010.08.024 · ExternalCitation · doi-reference
Ischemic optic neuropathy as a model of neurodegenerative disorder: a review of pathogenic mechanism of axonal degeneration and the role of neuroprotection
10.1016/j.jns.2016.12.044 · ExternalCitation · doi-reference
Inhibitory effect of curcumin on nitric oxide production from lipopolysaccharide-activated primary microglia
10.1016/j.lfs.2006.06.048 · ExternalCitation · doi-reference
Adeno-associated virus 2-mediated gene therapy decreases autofluorescent storage material and increases brain mass in a murine model of infantile neuronal ceroid lipofuscinosis
10.1016/j.nbd.2004.03.005 · ExternalCitation · doi-reference
A truncating mutation in ATP13A2 is responsible for adult-onset neuronal ceroid lipofuscinosis in Tibetan terriers
10.1016/j.nbd.2011.02.009 · ExternalCitation · doi-reference
Temporary inhibition of AMPA receptors induces a prolonged improvement of motor performance in a mouse model of juvenile Batten disease
10.1016/j.neuropharm.2010.10.010 · ExternalCitation · doi-reference
Adeno-associated virus (AAV) gene therapy for neurological disease
10.1016/j.neuropharm.2012.03.004 · ExternalCitation · doi-reference
Age-dependent therapeutic effect of memantine in a mouse model of juvenile Batten disease
10.1016/j.neuropharm.2012.05.040 · ExternalCitation · doi-reference
Identification of compound heterozygous mutations in GNPTG in three siblings of a Chinese family with mucolipidosis type III gamma
10.1016/j.ymgme.2010.09.007 · ExternalCitation · doi-reference
Characteristics of PPT1 and TPP1 enzymes in neuronal ceroid lipofuscinosis (NCL) 1 and 2 by dried blood spots (DBS) and leukocytes and their application to newborn screening
10.1016/j.ymgme.2018.03.007 · ExternalCitation · doi-reference
Prevention of photoreceptor cell loss in a Cln6nclf mouse model of batten disease requires CLN6 gene transfer to bipolar cells
10.1016/j.ymthe.2018.02.027 · ExternalCitation · doi-reference
Longitudinal in vivo monitoring of the CNS demonstrates the efficacy of gene therapy in a sheep model of CLN5 Batten disease
10.1016/j.ymthe.2018.07.015 · ExternalCitation · doi-reference
Oral cysteamine bitartrate and N-acetylcysteine for patients with infantile neuronal ceroid lipofuscinosis: a pilot study
10.1016/s1474-4422(14)70142-5 · ExternalCitation · doi-reference
Clinical challenges and future therapeutic approaches for neuronal ceroid lipofuscinosis
10.1016/s1474-4422(18)30368-5 · ExternalCitation · doi-reference
Safety and efficacy of cerliponase alfa in children with neuronal ceroid lipofuscinosis type 2 (CLN2 disease): an open-label extension study
10.1016/s1474-4422(23)00384-8 · ExternalCitation · doi-reference
Disease characteristics and progression in patients with late-infantile neuronal ceroid lipofuscinosis type 2 (CLN2) disease: an observational cohort study
10.1016/s2352-4642(18)30179-2 · ExternalCitation · doi-reference
Lysosomal ceroid depletion by drugs: therapeutic implications for a hereditary neurodegenerative disease of childhood
10.1038/86554 · ExternalCitation · doi-reference
Extraneuronal pathology in a canine model of CLN2 neuronal ceroid lipofuscinosis after intracerebroventricular gene therapy that delays neurological disease progression
10.1038/gt.2017.4 · ExternalCitation · doi-reference
Neuroprotection and lifespan extension in Ppt1-/- mice by NtBuHA: therapeutic implications for INCL
10.1038/nn.3526 · ExternalCitation · doi-reference
Adeno-associated virus vector as a platform for gene therapy delivery
10.1038/s41573-019-0012-9 · ExternalCitation · doi-reference
Neuronal ceroid lipofuscinosis: underlying mechanisms and emerging therapeutic targets
10.1038/s41582-025-01132-4 · ExternalCitation · doi-reference
Turkish variant late infantile neuronal ceroid lipofuscinosis (CLN7) may be allelic to CLN8
10.1053/ejpn.2000.0429 · ExternalCitation · doi-reference
The neuronal ceroid lipofuscinoses: a case-based overview
10.1055/s-0036-1582222 · ExternalCitation · doi-reference
Study of Intraventricular Cerliponase Alfa for CLN2 disease
10.1056/nejmoa1712649 · ExternalCitation · doi-reference
Patient-customized oligonucleotide therapy for a rare genetic disease
10.1056/nejmoa1813279 · ExternalCitation · doi-reference
Synergistic effects of treating the spinal cord and brain in CLN1 disease
10.1073/pnas.1701832114 · ExternalCitation · doi-reference
Gemfibrozil and fenofibrate, food and drug administration-approved lipid-lowering drugs, up-regulate tripeptidyl-peptidase 1 in brain cells via peroxisome proliferator-activated receptor α: implications for late infantile batten disease therapy
10.1074/jbc.m112.365148 · ExternalCitation · doi-reference
Progress in gene and cell therapies for the neuronal ceroid lipofuscinoses
10.1080/14712598.2018.1492544 · ExternalCitation · doi-reference
Diagnostic methods and emerging treatments for adult neuronal ceroid lipofuscinoses (Kufs disease)
10.1080/21678707.2017.1325359 · ExternalCitation · doi-reference
Advances in the treatment of neuronal ceroid lipofuscinosis
10.1080/21678707.2019.1684258 · ExternalCitation · doi-reference
Cerliponase alfa for CLN2 disease, a promising therapy
10.1080/21678707.2020.1856654 · ExternalCitation · doi-reference
Long-term expression and safety of administration of AAVrh.10hCLN2 to the brain of rats and nonhuman primates for the treatment of late infantile neuronal ceroid lipofuscinosis
10.1089/hgtb.2012.120 · ExternalCitation · doi-reference
Expressing transgenes that exceed the packaging capacity of adeno-associated virus capsids
10.1089/hgtb.2015.140 · ExternalCitation · doi-reference
Gene therapy approaches for lysosomal storage disease: next-generation treatment
10.1089/hum.2012.140 · ExternalCitation · doi-reference
Partial correction of the CNS lysosomal storage defect in a mouse model of juvenile neuronal ceroid lipofuscinosis by neonatal CNS administration of an adeno-associated virus serotype rh.10 vector expressing the human CLN3 Gene
10.1089/hum.2012.253 · ExternalCitation · doi-reference
Gene therapy targeting the inner retina rescues the retinal phenotype in a mouse model of CLN3 batten disease
10.1089/hum.2020.038 · ExternalCitation · doi-reference
Mutations in CLN7/MFSD8 are a common cause of variant late-infantile neuronal ceroid lipofuscinosis
10.1093/brain/awn366 · ExternalCitation · doi-reference
Immune cells perturb axons and impair neuronal survival in a mouse model of infantile neuronal ceroid lipofuscinosis
10.1093/brain/awt020 · ExternalCitation · doi-reference
Homozygous GRN mutations: new phenotypes and new insights into pathological and molecular mechanisms
10.1093/brain/awz377 · ExternalCitation · doi-reference
Characterization of the CLEAR network reveals an integrated control of cellular clearance pathways
10.1093/hmg/ddr306 · ExternalCitation · doi-reference
Mutation of the parkinsonism gene ATP13A2 causes neuronal ceroid-lipofuscinosis
10.1093/hmg/dds089 · ExternalCitation · doi-reference
The neuronal ceroid-lipofuscinoses
10.1093/jnen/62.1.1 · ExternalCitation · doi-reference
Lysosomal storage diseases: diagnostic confirmation and management of presymptomatic individuals
10.1097/gim.0b013e318211a7e1 · ExternalCitation · doi-reference
Adult-onset neuronal ceroid lipofuscinosis misdiagnosed as autoimmune encephalitis and normal-pressure hydrocephalus: a 10-year case report and case-based review
10.1097/md.0000000000040248 · ExternalCitation · doi-reference
Neuronal ceroid lipofuscinosis—concepts, classification, and avenues for therapy
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A gene network regulating lysosomal biogenesis and function
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