BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

228 related articles for article (PubMed ID: 32034082)

  • 21. A mouse mutant deficient in both neuronal ceroid lipofuscinosis-associated proteins CLN3 and TPP1.
    Sleat DE; Banach-Petrosky W; Larrimore KE; Nemtsova Y; Wiseman JA; Najafi A; Johnson D; Poole TA; Takahashi K; Cooper JD; Lobel P
    J Inherit Metab Dis; 2023 Jul; 46(4):720-734. PubMed ID: 37078466
    [TBL] [Abstract][Full Text] [Related]  

  • 22. Converging roles of PSENEN/PEN2 and CLN3 in the autophagy-lysosome system.
    Klein M; Kaleem A; Oetjen S; Wünkhaus D; Binkle L; Schilling S; Gjorgjieva M; Scholz R; Gruber-Schoffnegger D; Storch S; Kins S; Drewes G; Hoffmeister-Ullerich S; Kuhl D; Hermey G
    Autophagy; 2022 Sep; 18(9):2068-2085. PubMed ID: 34964690
    [TBL] [Abstract][Full Text] [Related]  

  • 23. Efficacy of phosphodiesterase-4 inhibitors in juvenile Batten disease (CLN3).
    Aldrich A; Bosch ME; Fallet R; Odvody J; Burkovetskaya M; Rama Rao KV; Cooper JD; Drack AV; Kielian T
    Ann Neurol; 2016 Dec; 80(6):909-923. PubMed ID: 27804148
    [TBL] [Abstract][Full Text] [Related]  

  • 24. Profound infantile neuroretinal dysfunction in a heterozygote for the CLN3 genetic defect.
    de los Reyes E; Dyken PR; Phillips P; Brodsky M; Bates S; Glasier C; Mrak RE
    J Child Neurol; 2004 Jan; 19(1):42-6. PubMed ID: 15032383
    [TBL] [Abstract][Full Text] [Related]  

  • 25. Juvenile neuronal ceroid-lipofuscinosis (Batten disease): a brief review and update.
    Rakheja D; Narayan SB; Bennett MJ
    Curr Mol Med; 2007 Sep; 7(6):603-8. PubMed ID: 17896996
    [TBL] [Abstract][Full Text] [Related]  

  • 26. Defective intracellular transport of CLN3 is the molecular basis of Batten disease (JNCL).
    Järvelä I; Lehtovirta M; Tikkanen R; Kyttälä A; Jalanko A
    Hum Mol Genet; 1999 Jun; 8(6):1091-8. PubMed ID: 10332042
    [TBL] [Abstract][Full Text] [Related]  

  • 27. The Unified Batten Disease Rating Scale (UBDRS): Validation and reliability in an independent CLN3 disease sample.
    Wibbeler E; Nickel M; Schwering C; Schulz A; Mink JW
    Eur J Paediatr Neurol; 2022 May; 38():62-65. PubMed ID: 35427884
    [TBL] [Abstract][Full Text] [Related]  

  • 28. Modulating membrane fluidity corrects Batten disease phenotypes in vitro and in vivo.
    Schultz ML; Tecedor L; Lysenko E; Ramachandran S; Stein CS; Davidson BL
    Neurobiol Dis; 2018 Jul; 115():182-193. PubMed ID: 29660499
    [TBL] [Abstract][Full Text] [Related]  

  • 29. A galactosylceramide binding domain is involved in trafficking of CLN3 from Golgi to rafts via recycling endosomes.
    Persaud-Sawin DA; McNamara JO; Rylova S; Vandongen A; Boustany RM
    Pediatr Res; 2004 Sep; 56(3):449-63. PubMed ID: 15240864
    [TBL] [Abstract][Full Text] [Related]  

  • 30. 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
    Nat Commun; 2023 Jul; 14(1):3911. PubMed ID: 37400440
    [TBL] [Abstract][Full Text] [Related]  

  • 31. Neurodevelopmental delay in the Cln3Deltaex7/8 mouse model for Batten disease.
    Osório NS; Sampaio-Marques B; Chan CH; Oliveira P; Pearce DA; Sousa N; Rodrigues F
    Genes Brain Behav; 2009 Apr; 8(3):337-45. PubMed ID: 19243453
    [TBL] [Abstract][Full Text] [Related]  

  • 32. Antigen presenting cell abnormalities in the Cln3(-/-) mouse model of juvenile neuronal ceroid lipofuscinosis.
    Hersrud SL; Kovács AD; Pearce DA
    Biochim Biophys Acta; 2016 Jul; 1862(7):1324-36. PubMed ID: 27101989
    [TBL] [Abstract][Full Text] [Related]  

  • 33. Altered sensitivity of cerebellar granule cells to glutamate receptor overactivation in the Cln3(Δex7/8)-knock-in mouse model of juvenile neuronal ceroid lipofuscinosis.
    Finn R; Kovács AD; Pearce DA
    Neurochem Int; 2011 May; 58(6):648-55. PubMed ID: 21315126
    [TBL] [Abstract][Full Text] [Related]  

  • 34. A novel mutation af Cln3 associated with delayed-classic juvenile ceroid lipofuscinois and autophagic vacuolar myopathy.
    Licchetta L; Bisulli F; Fietz M; Valentino ML; Morbin M; Mostacci B; Oliver KL; Berkovic SF; Tinuper P
    Eur J Med Genet; 2015 Oct; 58(10):540-4. PubMed ID: 26360874
    [TBL] [Abstract][Full Text] [Related]  

  • 35. Novel CLN3 mutation predicted to cause complete loss of protein function does not modify the classical JNCL phenotype.
    Kwon JM; Rothberg PG; Leman AR; Weimer JM; Mink JW; Pearce DA
    Neurosci Lett; 2005 Oct; 387(2):111-4. PubMed ID: 16087292
    [TBL] [Abstract][Full Text] [Related]  

  • 36. CLN3 is required for the clearance of glycerophosphodiesters from lysosomes.
    Laqtom NN; Dong W; Medoh UN; Cangelosi AL; Dharamdasani V; Chan SH; Kunchok T; Lewis CA; Heinze I; Tang R; Grimm C; Dang Do AN; Porter FD; Ori A; Sabatini DM; Abu-Remaileh M
    Nature; 2022 Sep; 609(7929):1005-1011. PubMed ID: 36131016
    [TBL] [Abstract][Full Text] [Related]  

  • 37. Evidence for aberrant astrocyte hemichannel activity in Juvenile Neuronal Ceroid Lipofuscinosis (JNCL).
    Burkovetskaya M; Karpuk N; Xiong J; Bosch M; Boska MD; Takeuchi H; Suzumura A; Kielian T
    PLoS One; 2014; 9(4):e95023. PubMed ID: 24736558
    [TBL] [Abstract][Full Text] [Related]  

  • 38. The CLN3 gene and protein: What we know.
    Mirza M; Vainshtein A; DiRonza A; Chandrachud U; Haslett LJ; Palmieri M; Storch S; Groh J; Dobzinski N; Napolitano G; Schmidtke C; Kerkovich DM
    Mol Genet Genomic Med; 2019 Dec; 7(12):e859. PubMed ID: 31568712
    [TBL] [Abstract][Full Text] [Related]  

  • 39. Loss of the Batten disease gene CLN3 prevents exit from the TGN of the mannose 6-phosphate receptor.
    Metcalf DJ; Calvi AA; Seaman MNj; Mitchison HM; Cutler DF
    Traffic; 2008 Nov; 9(11):1905-14. PubMed ID: 18817525
    [TBL] [Abstract][Full Text] [Related]  

  • 40. Altered flurothyl seizure induction latency, phenotype, and subsequent mortality in a mouse model of juvenile neuronal ceroid lipofuscinosis/batten disease.
    Kriscenski-Perry E; Applegate CD; Serour A; Mhyre TR; Leonardo CC; Pearce DA
    Epilepsia; 2002 Oct; 43(10):1137-40. PubMed ID: 12366726
    [TBL] [Abstract][Full Text] [Related]  

    [Previous]   [Next]    [New Search]
    of 12.