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Results 1 - 9 of 9 for Neuronal ceroid lipofuscinosis
  1. CLN8 gene 
    ... of CLN8, an ER-resident protein involved in neuronal ceroid lipofuscinosis. Biochim Biophys Acta. 2013 Mar;1833(3):529- ... WA, Mole SE, Lehesjoki AE. Variant late infantile neuronal ceroid lipofuscinosis in a subset of Turkish patients is allelic ...
    https://medlineplus.gov/genetics/gene/cln8 - Genetics
  2. CLN6 gene 
    ... SF. Kufs disease, the major adult form of neuronal ceroid lipofuscinosis, caused by mutations in CLN6. Am J Hum ... PubMed Kay C. Same gene, surprising difference: adult neuronal ceroid lipofuscinosis linked to CLN6, mutated in variant late-infantile ...
    https://medlineplus.gov/genetics/gene/cln6 - Genetics
  3. CLN5 gene 
    ... Adams J, Lee SY. Proteolytic processing of the neuronal ceroid lipofuscinosis related lysosomal protein CLN5. Exp Cell Res. 2015 ... A, Braulke T. Cell biology and function of neuronal ceroid lipofuscinosis-related proteins. Biochim Biophys Acta. 2013 Nov;1832( ...
    https://medlineplus.gov/genetics/gene/cln5 - Genetics
  4. MFSD8 gene 
    ... are a common cause of variant late-infantile neuronal ceroid lipofuscinosis. Brain. 2009 Mar;132(Pt 3):810-9. ... facilitator superfamily transporter associated with variant late-infantile neuronal ceroid lipofuscinosis. Hum Mol Genet. 2010 Nov 15;19(22): ...
    https://medlineplus.gov/genetics/gene/mfsd8 - Genetics
  5. CLN3 gene 
    ... is responsible for the late onset of juvenile neuronal ceroid lipofuscinosis. Hum Mol Genet. 2008 Jan 15;17(2): ... neuronal localization and trafficking of CLN3 in juvenile neuronal ceroid lipofuscinosis. J Neurochem. 2016 Nov;139(3):456-470. ...
    https://medlineplus.gov/genetics/gene/cln3 - Genetics
  6. CTSD gene 
    ... A, Braulke T. Cell biology and function of neuronal ceroid lipofuscinosis-related proteins. Biochim Biophys Acta. 2013 Nov;1832( ... 360 mutations in eight genes that underlie the neuronal ceroid lipofuscinoses. Hum Mutat. 2012 Jan;33(1):42-63. ...
    https://medlineplus.gov/genetics/gene/ctsd - Genetics
  7. PPT1 gene 
    ... thioesterase causing infantile and late-onset forms of neuronal ceroid lipofuscinosis. Hum Mol Genet. 2001 Jun 15;10(13): ... JD, Sands MS. Pathogenesis and therapies for infantile neuronal ceroid lipofuscinosis (infantile CLN1 disease). Biochim Biophys Acta. 2013 Nov; ...
    https://medlineplus.gov/genetics/gene/ppt1 - Genetics
  8. TPP1 gene 
    ... Specchio N, Xin W, Miller N. Diagnosis of neuronal ceroid lipofuscinosis type 2 (CLN2 disease): Expert recommendations for early ... R, Oller-Ramirez AM, Noher de Halac I. Neuronal ceroid lipofuscinosis type CLN2: a new rationale for the construction ...
    https://medlineplus.gov/genetics/gene/tpp1 - Genetics
  9. DNAJC5 gene 
    ... sequencing confirms DNAJC5 mutations as cause of adult neuronal ceroid-lipofuscinosis. PLoS One. 2011;6(11):e26741. doi: 10. ... Davis NG, Dawson G, Velinov M, Chandra SS. Neuronal ceroid lipofuscinosis with DNAJC5/CSPalpha mutation has PPT1 pathology and ...
    https://medlineplus.gov/genetics/gene/dnajc5 - Genetics