Literature DB >> 8316528

Neuronal ceroid-lipofuscinoses in childhood.

J Rapola1.   

Abstract

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Year:  1993        PMID： 8316528

Source DB:  PubMed          Journal:  Perspect Pediatr Pathol        ISSN： 0091-2921


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  4 in total

1.  Deletion of the Caenorhabditis elegans homologues of the CLN3 gene, involved in human juvenile neuronal ceroid lipofuscinosis, causes a mild progeric phenotype.

Authors:  G de Voer; P van der Bent; A J G Rodrigues; G-J B van Ommen; D J M Peters; P E M Taschner
Journal:  J Inherit Metab Dis       Date:  2005       Impact factor: 4.982

2.  A mutation in the ovine cathepsin D gene causes a congenital lysosomal storage disease with profound neurodegeneration.

Authors:  J Tyynelä; I Sohar; D E Sleat; R M Gin; R J Donnelly; M Baumann; M Haltia; P Lobel
Journal:  EMBO J       Date:  2000-06-15       Impact factor: 11.598

3.  Neuronal ceroid lipofuscinoses are connected at molecular level: interaction of CLN5 protein with CLN2 and CLN3.

Authors:  Jouni Vesa; Mark H Chin; Kathrin Oelgeschläger; Juha Isosomppi; Esteban C DellAngelica; Anu Jalanko; Leena Peltonen
Journal:  Mol Biol Cell       Date:  2002-07       Impact factor: 4.138

4.  Gene correction of the CLN3 c.175G>A variant in patient-derived induced pluripotent stem cells prevents pathological changes in retinal organoids.

Authors:  Xiao Zhang; Dan Zhang; Jennifer A Thompson; Shang-Chih Chen; Zhiqin Huang; Luke Jennings; Terri L McLaren; Tina M Lamey; John N De Roach; Fred K Chen; Samuel McLenachan
Journal:  Mol Genet Genomic Med       Date:  2021-01-26       Impact factor: 2.183
  4 in total

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