Genetic basis and phenotypic correlations of the neuronal ceroid lipofusinoses.

scientific article

Genetic basis and phenotypic correlations of the neuronal ceroid lipofusinoses. is …
instance of (P31):
scholarly articleQ13442814

External links are
P356DOI10.1016/J.BBADIS.2013.03.017
P698PubMed publication ID23542453
P5875ResearchGate publication ID236093785

P50authorSara E. MoleQ42563205
Varun WarrierQ57644297
Mariana VieiraQ86511095
P2093author name stringMariana Vieira
P433issue11
P407language of work or nameEnglishQ1860
P1104number of pages4
P304page(s)1827-1830
P577publication date2013-03-28
P1433published inBiochimica et Biophysica ActaQ864239
P1476titleGenetic basis and phenotypic correlations of the neuronal ceroid lipofusinoses
P478volume1832

Reverse relations

cites work (P2860)
Q38391238A CLN8 nonsense mutation in the whole genome sequence of a mixed breed dog with neuronal ceroid lipofuscinosis and Australian Shepherd ancestry
Q92122633A mixed breed dog with neuronal ceroid lipofuscinosis is homozygous for a CLN5 nonsense mutation previously identified in Border Collies and Australian Cattle Dogs
Q83226085A model of neuronal ceroid lipofuscinosis reveals a hypermorphic gain of function mechanism
Q33626697A tailored mouse model of CLN2 disease: A nonsense mutant for testing personalized therapies.
Q92907232ATP13A2 missense variant in Australian Cattle Dogs with late onset neuronal ceroid lipofuscinosis
Q48469928Adult-onset autosomal recessive ataxia associated with neuronal ceroid lipofuscinosis type 5 gene (CLN5) mutations
Q60045367Batten disease: biochemical and molecular characterization revealing novel PPT1 and TPP1 gene mutations in Indian patients
Q36065476Cln1 gene disruption in mice reveals a common pathogenic link between two of the most lethal childhood neurodegenerative lysosomal storage disorders
Q34679086Enzyme replacement therapy attenuates disease progression in a canine model of late-infantile neuronal ceroid lipofuscinosis (CLN2 disease).
Q36010426Evaluation of disease progression in INCL by MR spectroscopy
Q40038745Exacerbating and reversing lysosomal storage diseases: from yeast to humans
Q35237718Finding the most appropriate mouse model of juvenile CLN3 (Batten) disease for therapeutic studies: the importance of genetic background and gender
Q83226104Fly model sheds light on brain disease
Q92089380Gene Therapy Corrects Brain and Behavioral Pathologies in CLN6-Batten Disease
Q42682614Glial cells are functionally impaired in juvenile neuronal ceroid lipofuscinosis and detrimental to neurons.
Q50109345Identification of two novel null variants in CLN8 by targeted next-generation sequencing: first report of a Chinese patient with neuronal ceroid lipofuscinosis due to CLN8 variants.
Q37119594Intracerebroventricular gene therapy that delays neurological disease progression is associated with selective preservation of retinal ganglion cells in a canine model of CLN2 disease
Q27334931Loss of Cln3 function in the social amoeba Dictyostelium discoideum causes pleiotropic effects that are rescued by human CLN3
Q38808353MRI Brain Volume Measurements in Infantile Neuronal Ceroid Lipofuscinosis
Q36647128Manifestation of neuronal ceroid lipofuscinosis in Australian Merino sheep: observations on altered behaviour and growth
Q33918923Mesenchymal stem cells as cellular vectors for pediatric neurological disorders
Q35588896Multifocal retinopathy in Dachshunds with CLN2 neuronal ceroid lipofuscinosis
Q37496246Mutations in palmitoyl-protein thioesterase 1 alter exocytosis and endocytosis at synapses in Drosophila larvae
Q27339580Neurodegeneration and Epilepsy in a Zebrafish Model of CLN3 Disease (Batten Disease)
Q99556609Neuroinflammation and progressive myoclonus epilepsies: from basic science to therapeutic opportunities
Q91114347Neuronal ceroid lipofuscinosis in a German Shorthaired Pointer associated with a previously reported CLN8 nonsense variant
Q36685260Neuronal ceroid lipofuscinosis with DNAJC5/CSPα mutation has PPT1 pathology and exhibit aberrant protein palmitoylation.
Q64088327Next-Generation Sequencing Analysis Reveals Novel Pathogenic Variants in Four Chinese Siblings With Late-Infantile Neuronal Ceroid Lipofuscinosis
Q35179770Non-invasive assessment of retinal alterations in mouse models of infantile and juvenile neuronal ceroid lipofuscinosis by spectral domain optical coherence tomography
Q58699413Novel in-frame deletion in MFSD8 gene revealed by trio whole exome sequencing in an Iranian affected with neuronal ceroid lipofuscinosis type 7: a case report
Q35041354Partial genetic suppression of a loss-of-function mutant of the neuronal ceroid lipofuscinosis-associated protease TPP1 in Dictyostelium discoideum.
Q34622488Progressive retinal degeneration and accumulation of autofluorescent lipopigments in Progranulin deficient mice
Q47973239Proteomic Analysis of Brain and Cerebrospinal Fluid from the Three Major Forms of Neuronal Ceroid Lipofuscinosis Reveals Potential Biomarkers
Q36410273Suppression of agrin-22 production and synaptic dysfunction in Cln1 (-/-) mice
Q35636176Sustained Neural Stem Cell-Based Intraocular Delivery of CNTF Attenuates Photoreceptor Loss in the nclf Mouse Model of Neuronal Ceroid Lipofuscinosis
Q38695394Synergistic effects of treating the spinal cord and brain in CLN1 disease.
Q38261110Systemic diseases associated with retinal dystrophies
Q38817664The Role of Cathepsin D in the Pathogenesis of Human Neurodegenerative Disorders.
Q61446057Tracking sex-dependent differences in a mouse model of CLN6-Batten disease
Q61443537Two cases of variant late infantile ceroid lipofuscinosis in Jordan
Q35860759Unbiased Cell-based Screening in a Neuronal Cell Model of Batten Disease Highlights an Interaction between Ca2+ Homeostasis, Autophagy, and CLN3 Protein Function

Search more.