Eija Siintola

Summary

Affiliation: University of Helsinki
Country: Finland

Publications

  1. ncbi request reprint Molecular genetics of the NCLs -- status and perspectives
    Eija Siintola
    Folkhalsan Institute of Genetics, Department of Medical Genetics and Neuroscience Center, Biomedicum Helsinki, University of Helsinki, Finland
    Biochim Biophys Acta 1762:857-64. 2006
  2. doi request reprint Novel SIL1 mutations and exclusion of functional candidate genes in Marinesco-Sjögren syndrome
    Anna Kaisa Anttonen
    Folkhälsan Institute of Genetics and Neuroscience Center, Department of Medical Genetics, University of Helsinki, Helsinki, Finland
    Eur J Hum Genet 16:961-9. 2008
  3. doi request reprint Mutations in CLN7/MFSD8 are a common cause of variant late-infantile neuronal ceroid lipofuscinosis
    Maria Kousi
    Folkhalsan Institute of Genetics, Department of Medical Genetics and Neuroscience Center, University of Helsinki, Finland
    Brain 132:810-9. 2009
  4. ncbi request reprint Localization of wild-type and mutant neuronal ceroid lipofuscinosis CLN8 proteins in non-neuronal and neuronal cells
    Liina Lonka
    Folkhalsan Institute of Genetics, Department of Medical Genetics and Neuroscience Center, University of Helsinki, Finland
    J Neurosci Res 76:862-71. 2004
  5. pmc The novel neuronal ceroid lipofuscinosis gene MFSD8 encodes a putative lysosomal transporter
    Eija Siintola
    Folkhalsan Institute of Genetics, Biomedicum Helsinki, P O Box 63 Haartmaninkatu 8, 00014 University of Helsinki, Helsinki, Finland
    Am J Hum Genet 81:136-46. 2007
  6. ncbi request reprint Cathepsin D deficiency underlies congenital human neuronal ceroid-lipofuscinosis
    Eija Siintola
    Folkhalsan Institute of Genetics, Department of Medical Genetics and Neuroscience Center, University of Helsinki Helsinki, Finland
    Brain 129:1438-45. 2006

Collaborators

Detail Information

Publications6

  1. ncbi request reprint Molecular genetics of the NCLs -- status and perspectives
    Eija Siintola
    Folkhalsan Institute of Genetics, Department of Medical Genetics and Neuroscience Center, Biomedicum Helsinki, University of Helsinki, Finland
    Biochim Biophys Acta 1762:857-64. 2006
    ..Additional clues to the identification of these unknown genes may come from animal models of NCL and from functional studies of already known genes which may suggest further candidates...
  2. doi request reprint Novel SIL1 mutations and exclusion of functional candidate genes in Marinesco-Sjögren syndrome
    Anna Kaisa Anttonen
    Folkhälsan Institute of Genetics and Neuroscience Center, Department of Medical Genetics, University of Helsinki, Helsinki, Finland
    Eur J Hum Genet 16:961-9. 2008
    ..These data imply that aggregation of mutant proteins may contribute to MSS pathogenesis. The genetic background of a subgroup of patients with MSS remains uncovered...
  3. doi request reprint Mutations in CLN7/MFSD8 are a common cause of variant late-infantile neuronal ceroid lipofuscinosis
    Maria Kousi
    Folkhalsan Institute of Genetics, Department of Medical Genetics and Neuroscience Center, University of Helsinki, Finland
    Brain 132:810-9. 2009
    ..A significant number of NCL patients in Turkey exist, in which the underlying genetic defect remains to be determined...
  4. ncbi request reprint Localization of wild-type and mutant neuronal ceroid lipofuscinosis CLN8 proteins in non-neuronal and neuronal cells
    Liina Lonka
    Folkhalsan Institute of Genetics, Department of Medical Genetics and Neuroscience Center, University of Helsinki, Finland
    J Neurosci Res 76:862-71. 2004
    ..Consequently, there is no obvious genotype-phenotype correlation at the level of protein localization and thus mutations most likely directly affect functionally important domains of CLN8...
  5. pmc The novel neuronal ceroid lipofuscinosis gene MFSD8 encodes a putative lysosomal transporter
    Eija Siintola
    Folkhalsan Institute of Genetics, Biomedicum Helsinki, P O Box 63 Haartmaninkatu 8, 00014 University of Helsinki, Helsinki, Finland
    Am J Hum Genet 81:136-46. 2007
    ..Analysis of the genome-scan data suggests the existence of at least three more genes in the remaining five families, further corroborating the great genetic heterogeneity of LINCLs...
  6. ncbi request reprint Cathepsin D deficiency underlies congenital human neuronal ceroid-lipofuscinosis
    Eija Siintola
    Folkhalsan Institute of Genetics, Department of Medical Genetics and Neuroscience Center, University of Helsinki Helsinki, Finland
    Brain 129:1438-45. 2006
    ..The present observations also suggest that cathepsin D deficiency should be considered as a possible diagnosis in microcephalic neonates, who present with seizures at or before birth...