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Classification of neuronal ceroid lipofuscinoses (NCLs)[1-6]

Classification of neuronal ceroid lipofuscinoses (NCLs)[1-6]
Phenotype Age of onset Gene Chromosome Protein Ultrastructure
CLN1 Infantile, but also late-infantile, juvenile, and adult PPT1 1p32 PPT1 GRODS
CLN2 Late-infantile, but also juvenile TPP1 11p15 TPP1 Curvilinear profiles
CLN3 Juvenile CLN3 16p12 Lysosomal transmembrane protein Fingerprint profiles
CLN4 Adult (Parry) DNAJC5 20q13.33 Cysteine string protein Rectilinear profiles
CLN5 Late-infantile (Finnish variant) CLN5 13q22 Soluble lysosomal protein Rectilinear profiles, curvilinear profiles, fingerprint profiles
CLN6 Late-infantile, adult (Kufs type A) CLN6 15q21 Transmembrane protein of ER Rectilinear profiles, curvilinear profiles, fingerprint profiles
CLN7 Late-infantile, Turkish variant MFSD8 4q28 MFSD8, lysosomal membrane protein Fingerprint profiles
CLN8 Late-infantile, Northern epilepsy CLN8 8q23 Transmembrane protein of ER Curvilinear profiles
CLN9 Proposed, but not confirmed CLN9      
CLN10 Congenital, juvenile CTSD 11p15 Cathepsin D GRODS
CLN11 Adult GRN 17q21 Progranulin Fingerprint profiles
CLN12 Juvenile ATP13A2 1p36 Kufor-Rakeb syndrome "Whorled lamellar inclusions"
CLN13 Adult (Kufs type B) CTSF 11q13 Cathepsin F Fingerprint profiles?
CLN14 Infantile KCTD7 7q11 Potassium channel tetramerization domain-containing protein 7 Variable
ER: endoplasmic reticulum; GRODS: granular osmiophilic deposits.
References:
  1. Mink JW, Augustine EF, Adams HR, et al. Classification and natural history of the neuronal ceroid lipofuscinoses. J Child Neurol 2013; 28:1101.
  2. Jalanko A, Braulke T. Neuronal ceroid lipofuscinoses. Biochim Biophys Acta 2009; 1793:697.
  3. Smith KR, Damiano J, Franceschetti S, et al. Strikingly different clinicopathological phenotypes determined by progranulin-mutation dosage. Am J Hum Genet 2012; 90:1102.
  4. Bras J, Verloes A, Schneider SA, et al. Mutation of the parkinsonism gene ATP13A2 causes neuronal ceroid-lipofuscinosis. Hum Mol Genet 2012; 21:2646.
  5. Smith KR, Dahl HH, Canafoglia L, et al. Cathepsin F mutations cause Type B Kufs disease, an adult-onset neuronal ceroid lipofuscinosis. Hum Mol Genet 2013; 22:1417.
  6. Staropoli JF, Karaa A, Lim ET, et al. A homozygous mutation in KCTD7 links neuronal ceroid lipofuscinosis to the ubiquitin-proteasome system. Am J Hum Genet 2012; 91:202.
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