| scholarly article | Q13442814 |
| P819 | ADS bibcode | 2017PLoSO..1276526G |
| P356 | DOI | 10.1371/JOURNAL.PONE.0176526 |
| P932 | PMC publication ID | 5413059 |
| P698 | PubMed publication ID | 28464005 |
| P50 | author | Camille Parker | Q87091396 |
| Logan M Langin | Q87975309 | ||
| Jacob T Cain | Q87975313 | ||
| Attila D Kovacs | Q87975316 | ||
| P2093 | author name string | David A Pearce | |
| Jill M Weimer | |||
| Rosanna Beraldi | |||
| Ryan D Geraets | |||
| P2860 | cites work | Astrogliosis in CNS pathologies: is there a role for microglia? | Q23911551 |
| Tripeptidyl peptidase I, the late infantile neuronal ceroid lipofuscinosis gene product, initiates the lysosomal degradation of subunit c of ATP synthase | Q24290158 | ||
| Association of mutations in a lysosomal protein with classical late-infantile neuronal ceroid lipofuscinosis | Q24311617 | ||
| Moving towards effective therapeutic strategies for Neuronal Ceroid Lipofuscinosis | Q26753109 | ||
| Classification and natural history of the neuronal ceroid lipofuscinoses | Q26828537 | ||
| The novel Cln1(R151X) mouse model of infantile neuronal ceroid lipofuscinosis (INCL) for testing nonsense suppression therapy | Q27301297 | ||
| Experimental therapies in the neuronal ceroid lipofuscinoses | Q28088270 | ||
| Attenuation of nonsense-mediated mRNA decay enhances in vivo nonsense suppression | Q28486134 | ||
| A mouse model of classical late-infantile neuronal ceroid lipofuscinosis based on targeted disruption of the CLN2 gene results in a loss of tripeptidyl-peptidase I activity and progressive neurodegeneration | Q28591640 | ||
| Novel small molecules potentiate premature termination codon readthrough by aminoglycosides | Q28828711 | ||
| Early-life programming of later-life brain and behavior: a critical role for the immune system | Q30487006 | ||
| Gentamicin-mediated suppression of Hurler syndrome stop mutations restores a low level of alpha-L-iduronidase activity and reduces lysosomal glycosaminoglycan accumulation | Q31837572 | ||
| Determination of the substrate specificity of tripeptidyl-peptidase I using combinatorial peptide libraries and development of improved fluorogenic substrates | Q33229000 | ||
| Behavioral phenotyping of transgenic and knockout mice: experimental design and evaluation of general health, sensory functions, motor abilities, and specific behavioral tests | Q33711537 | ||
| Glial fibrillary acidic protein: GFAP-thirty-one years (1969-2000). | Q33923906 | ||
| The genetic spectrum of human neuronal ceroid-lipofuscinoses | Q34302797 | ||
| Genetic basis and phenotypic correlations of the neuronal ceroid lipofusinoses. | Q34336077 | ||
| Correlations between genotype, ultrastructural morphology and clinical phenotype in the neuronal ceroid lipofuscinoses | Q34427575 | ||
| Prevalence of lysosomal storage disorders | Q34489300 | ||
| Molecular genetics of the NCLs -- status and perspectives | Q34545774 | ||
| The neuronal ceroid-lipofuscinoses: from past to present | Q34557117 | ||
| Lysosomal storage diseases: diagnostic confirmation and management of presymptomatic individuals | Q34628634 | ||
| Unfolding the role of protein misfolding in neurodegenerative diseases | Q35038274 | ||
| The neuronal ceroid-lipofuscinoses | Q35045618 | ||
| The mouse light/dark box test | Q35071479 | ||
| Late onset neurodegeneration in the Cln3-/- mouse model of juvenile neuronal ceroid lipofuscinosis is preceded by low level glial activation. | Q52087477 | ||
| Neuronal ceroid lipofuscinoses | Q56566989 | ||
| Mitochondrial ATP synthase subunit c storage in the ceroid-lipofuscinoses (Batten disease) | Q68057216 | ||
| Enzyme-based diagnosis of classical late infantile neuronal ceroid lipofuscinosis: comparison of tripeptidyl peptidase I and pepstatin-insensitive protease assays | Q74000517 | ||
| A rapid fluorogenic palmitoyl-protein thioesterase assay: pre- and postnatal diagnosis of INCL | Q77223127 | ||
| Hippocampal pathology in the human neuronal ceroid-lipofuscinoses: distinct patterns of storage deposition, neurodegeneration and glial activation | Q81161392 | ||
| Neuronal ceroid lipofuscinoses | Q86668207 | ||
| Progress towards understanding the neurobiology of Batten disease or neuronal ceroid lipofuscinosis | Q35088229 | ||
| Finding the most appropriate mouse model of juvenile CLN3 (Batten) disease for therapeutic studies: the importance of genetic background and gender | Q35237718 | ||
| The role of attenuated astrocyte activation in infantile neuronal ceroid lipofuscinosis | Q35556543 | ||
| Abbreviated exposure to hypoxia is sufficient to induce CNS dysmyelination, modulate spinal motor neuron composition, and impair motor development in neonatal mice | Q35644564 | ||
| The designer aminoglycoside NB84 significantly reduces glycosaminoglycan accumulation associated with MPS I-H in the Idua-W392X mouse | Q35661233 | ||
| Selectivity and types of cell death in the neuronal ceroid lipofuscinoses | Q35681068 | ||
| Successive neuron loss in the thalamus and cortex in a mouse model of infantile neuronal ceroid lipofuscinosis | Q35785612 | ||
| Genetics of the neuronal ceroid lipofuscinoses (Batten disease). | Q36053005 | ||
| Storage solutions: treating lysosomal disorders of the brain | Q36210235 | ||
| Stop-codon read-through for patients affected by a lysosomal storage disorder. | Q36517730 | ||
| Diagnosis of the neuronal ceroid lipofuscinoses: an update | Q36576241 | ||
| Progress towards understanding disease mechanisms in small vertebrate models of neuronal ceroid lipofuscinosis. | Q36615440 | ||
| Mechanisms of Disease: astrocytes in neurodegenerative disease | Q36658874 | ||
| Residual levels of tripeptidyl-peptidase I activity dramatically ameliorate disease in late-infantile neuronal ceroid lipofuscinosis | Q36772344 | ||
| Location- and sex-specific differences in weight and motor coordination in two commonly used mouse strains | Q36973584 | ||
| Cerebellar pathology and motor deficits in the palmitoyl protein thioesterase 1-deficient mouse | Q37186176 | ||
| Lysosomal disorders: from storage to cellular damage | Q37359176 | ||
| Long-term nonsense suppression therapy moderates MPS I-H disease progression. | Q37619694 | ||
| Therapeutics based on stop codon readthrough | Q37638359 | ||
| Neuroglia in neurodegeneration | Q37640508 | ||
| Microglia: biology and pathology | Q37655575 | ||
| Microglial activation and chronic neurodegeneration | Q37794379 | ||
| Update of the mutation spectrum and clinical correlations of over 360 mutations in eight genes that underlie the neuronal ceroid lipofuscinoses | Q37944570 | ||
| Mouse models of neuronal ceroid lipofuscinoses: useful pre-clinical tools to delineate disease pathophysiology and validate therapeutics | Q38002517 | ||
| Review: activation patterns of microglia and their identification in the human brain. | Q38068503 | ||
| Gene therapy for the neurological manifestations in lysosomal storage disorders | Q38200599 | ||
| Targeting Nonsense Mutations in Diseases with Translational Read-Through-Inducing Drugs (TRIDs). | Q38737126 | ||
| The role of nonsense-mediated decay in neuronal ceroid lipofuscinosis | Q39173871 | ||
| New nomenclature and classification scheme for the neuronal ceroid lipofuscinoses | Q39589019 | ||
| Aminoglycoside-mediated suppression of nonsense mutations in late infantile neuronal ceroid lipofuscinosis | Q40776534 | ||
| A lysosomal proteinase, the late infantile neuronal ceroid lipofuscinosis gene (CLN2) product, is essential for degradation of a hydrophobic protein, the subunit c of ATP synthase. | Q40951458 | ||
| NCL diseases - clinical perspectives | Q42048359 | ||
| A zebrafish model of CLN2 disease is deficient in tripeptidyl peptidase 1 and displays progressive neurodegeneration accompanied by a reduction in proliferation | Q47073900 | ||
| The neuronal ceroid-lipofuscinoses: a historical introduction | Q48384621 | ||
| Thalamocortical neuron loss and localized astrocytosis in the Cln3Deltaex7/8 knock-in mouse model of Batten disease | Q48818717 | ||
| P275 | copyright license | Creative Commons Attribution 4.0 International | Q20007257 |
| P6216 | copyright status | copyrighted | Q50423863 |
| P433 | issue | 5 | |
| P407 | language of work or name | English | Q1860 |
| P304 | page(s) | e0176526 | |
| P577 | publication date | 2017-05-02 | |
| P1433 | published in | PLOS One | Q564954 |
| P1476 | title | A tailored mouse model of CLN2 disease: A nonsense mutant for testing personalized therapies | |
| P478 | volume | 12 |
| Q92122633 | A mixed breed dog with neuronal ceroid lipofuscinosis is homozygous for a CLN5 nonsense mutation previously identified in Border Collies and Australian Cattle Dogs |
| Q96816294 | A tailored Cln3Q352X mouse model for testing therapeutic interventions in CLN3 Batten disease |
| Q100430604 | AAV9 Gene Therapy Increases Lifespan and Treats Pathological and Behavioral Abnormalities in a Mouse Model of CLN8-Batten Disease |
| Q90813066 | Changes in motor behavior, neuropathology, and gut microbiota of a Batten disease mouse model following administration of acidified drinking water |
| Q91839653 | Changing Times for CLN2 Disease: The Era of Enzyme Replacement Therapy |
| Q64100419 | Global Brain Transcriptome Analysis of a Tpp1 Neuronal Ceroid Lipofuscinoses Mouse Model |
| Q48097209 | Inducible transgenic expression of tripeptidyl peptidase 1 in a mouse model of late-infantile neuronal ceroid lipofuscinosis. |
| Q67231334 | Mutation update: Review of TPP1 gene variants associated with neuronal ceroid lipofuscinosis CLN2 disease |
| Q64040442 | Therapeutic landscape for Batten disease: current treatments and future prospects |
| Q89778072 | Validating indicators of CNS disorders in a swine model of neurological disease |
Search more.