BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

323 related articles for article (PubMed ID: 22701626)

  • 21. Synapse alterations precede neuronal damage and storage pathology in a human cerebral organoid model of CLN3-juvenile neuronal ceroid lipofuscinosis.
    Gomez-Giro G; Arias-Fuenzalida J; Jarazo J; Zeuschner D; Ali M; Possemis N; Bolognin S; Halder R; Jäger C; Kuper WFE; van Hasselt PM; Zaehres H; Del Sol A; van der Putten H; Schöler HR; Schwamborn JC
    Acta Neuropathol Commun; 2019 Dec; 7(1):222. PubMed ID: 31888773
    [TBL] [Abstract][Full Text] [Related]  

  • 22. A function retained by the common mutant CLN3 protein is responsible for the late onset of juvenile neuronal ceroid lipofuscinosis.
    Kitzmüller C; Haines RL; Codlin S; Cutler DF; Mole SE
    Hum Mol Genet; 2008 Jan; 17(2):303-12. PubMed ID: 17947292
    [TBL] [Abstract][Full Text] [Related]  

  • 23. Phenotypic characterization of a mouse model of juvenile neuronal ceroid lipofuscinosis.
    Katz ML; Johnson GS; Tullis GE; Lei B
    Neurobiol Dis; 2008 Feb; 29(2):242-53. PubMed ID: 17962032
    [TBL] [Abstract][Full Text] [Related]  

  • 24. Cln3-mutations underlying juvenile neuronal ceroid lipofuscinosis cause significantly reduced levels of Palmitoyl-protein thioesterases-1 (Ppt1)-protein and Ppt1-enzyme activity in the lysosome.
    Appu AP; Bagh MB; Sadhukhan T; Mondal A; Casey S; Mukherjee AB
    J Inherit Metab Dis; 2019 Sep; 42(5):944-954. PubMed ID: 31025705
    [TBL] [Abstract][Full Text] [Related]  

  • 25. A knock-in reporter mouse model for Batten disease reveals predominant expression of Cln3 in visual, limbic and subcortical motor structures.
    Ding SL; Tecedor L; Stein CS; Davidson BL
    Neurobiol Dis; 2011 Feb; 41(2):237-48. PubMed ID: 20875858
    [TBL] [Abstract][Full Text] [Related]  

  • 26. Osmoregulation of ceroid neuronal lipofuscinosis type 3 in the renal medulla.
    Stein CS; Yancey PH; Martins I; Sigmund RD; Stokes JB; Davidson BL
    Am J Physiol Cell Physiol; 2010 Jun; 298(6):C1388-400. PubMed ID: 20219947
    [TBL] [Abstract][Full Text] [Related]  

  • 27. Novel homozygous CLN3 missense variant in isolated retinal dystrophy: A case report and electron microscopic findings.
    Mizobuchi K; Hayashi T; Yoshitake K; Fujinami K; Tachibana T; Tsunoda K; Iwata T; Nakano T
    Mol Genet Genomic Med; 2020 Aug; 8(8):e1308. PubMed ID: 32441891
    [TBL] [Abstract][Full Text] [Related]  

  • 28. 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]  

  • 29. 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]  

  • 30. Unbiased Cell-based Screening in a Neuronal Cell Model of Batten Disease Highlights an Interaction between Ca2+ Homeostasis, Autophagy, and CLN3 Protein Function.
    Chandrachud U; Walker MW; Simas AM; Heetveld S; Petcherski A; Klein M; Oh H; Wolf P; Zhao WN; Norton S; Haggarty SJ; Lloyd-Evans E; Cotman SL
    J Biol Chem; 2015 Jun; 290(23):14361-80. PubMed ID: 25878248
    [TBL] [Abstract][Full Text] [Related]  

  • 31. An Ophthalmic Rating Scale to Assess Ocular Involvement in Juvenile CLN3 Disease.
    Dulz S; Atiskova Y; Wibbeler E; Wildner J; Wagenfeld L; Schwering C; Nickel M; Bartsch U; Spitzer MS; Schulz A
    Am J Ophthalmol; 2020 Dec; 220():64-71. PubMed ID: 32707205
    [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. 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]  

  • 34. 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]  

  • 35. Protracted course of juvenile ceroid lipofuscinosis associated with a novel CLN3 mutation (p.Y199X).
    Sarpong A; Schottmann G; Rüther K; Stoltenburg G; Kohlschütter A; Hübner C; Schuelke M
    Clin Genet; 2009 Jul; 76(1):38-45. PubMed ID: 19489875
    [TBL] [Abstract][Full Text] [Related]  

  • 36. Retinal pathology and function in a Cln3 knockout mouse model of juvenile Neuronal Ceroid Lipofuscinosis (batten disease).
    Seigel GM; Lotery A; Kummer A; Bernard DJ; Greene ND; Turmaine M; Derksen T; Nussbaum RL; Davidson B; Wagner J; Mitchison HM
    Mol Cell Neurosci; 2002 Apr; 19(4):515-27. PubMed ID: 11988019
    [TBL] [Abstract][Full Text] [Related]  

  • 37. Gene Therapy Targeting the Inner Retina Rescues the Retinal Phenotype in a Mouse Model of CLN3 Batten Disease.
    Kleine Holthaus SM; Aristorena M; Maswood R; Semenyuk O; Hoke J; Hare A; Smith AJ; Mole SE; Ali RR
    Hum Gene Ther; 2020 Jul; 31(13-14):709-718. PubMed ID: 32578444
    [TBL] [Abstract][Full Text] [Related]  

  • 38. A recessive
    Reith RR; Batt MC; Fuller AM; Meekins JM; Diehl KA; Zhou Y; Bedwell PS; Ward JA; Sanders SK; Petersen JL; Steffen DJ
    J Vet Diagn Invest; 2024 May; 36(3):438-446. PubMed ID: 38516801
    [TBL] [Abstract][Full Text] [Related]  

  • 39. Altered Expression of Ganglioside Metabolizing Enzymes Results in GM3 Ganglioside Accumulation in Cerebellar Cells of a Mouse Model of Juvenile Neuronal Ceroid Lipofuscinosis.
    Somogyi A; Petcherski A; Beckert B; Huebecker M; Priestman DA; Banning A; Cotman SL; Platt FM; Ruonala MO; Tikkanen R
    Int J Mol Sci; 2018 Feb; 19(2):. PubMed ID: 29470438
    [TBL] [Abstract][Full Text] [Related]  

  • 40. Using Patient-Specific Induced Pluripotent Stem Cells and Wild-Type Mice to Develop a Gene Augmentation-Based Strategy to Treat CLN3-Associated Retinal Degeneration.
    Wiley LA; Burnight ER; Drack AV; Banach BB; Ochoa D; Cranston CM; Madumba RA; East JS; Mullins RF; Stone EM; Tucker BA
    Hum Gene Ther; 2016 Oct; 27(10):835-846. PubMed ID: 27400765
    [TBL] [Abstract][Full Text] [Related]  

    [Previous]   [Next]    [New Search]
    of 17.