A defect in the CLIP1 gene (CLIP-170) can cause autosomal recessive intellectual disability

Other literature type, Article English OPEN
Larti, Farzaneh ; Kahrizi, Kimia ; Musante, Luciana ; Hu, Hao ; Papari, Elahe ; Fattahi, Zohreh ; Bazazzadegan, Niloofar ; Liu, Zhe ; Banan, Mehdi ; Garshasbi, Masoud ; Wienker, Thomas F ; Hilger Ropers, H ; Galjart, Niels ; Najmabadi, Hossein (2015)

In the context of a comprehensive research project, investigating novel autosomal recessive intellectual disability (ARID) genes, linkage analysis based on autozygosity mapping helped identify an intellectual disability locus on Chr.12q24, in an Iranian family (LOD scor... View more
  • References (35)
    35 references, page 1 of 4

    1 Kaufman L, Ayub M, Vincent JB: The genetic basis of non-syndromic intellectual disability: a review. J Neurodev Disorders 2010; 2: 182-209.

    2 Najmabadi H, Motazacker MM, Garshasbi M et al: Homozygosity mapping in consanguineous families reveals extreme heterogeneity of non-syndromic autosomal recessive mental retardation and identifies 8 novel gene loci. Hum Genetics 2007; 121: 43-48.

    3 Najmabadi H, Hu H, Garshasbi M et al: Deep sequencing reveals 50 novel genes for recessive cognitive disorders. Nature 2011; 478: 57-63.

    4 Kuss A-W, Garshasbi M, Kahrizi K et al: Autosomal recessive mental retardation: homozygosity mapping identifies 27 single linkage intervals, at least 14 novel loci and several mutation hotspots. Hum Genetics 2011; 129: 141-148.

    5 Jaworski J, Hoogenraad CC, Akhmanova A: Microtubule plus-end tracking proteins in differentiated mammalian cells. Int J Biochem Cell Biol 2008; 40: 619-637.

    6 Coquelle FM, Caspi M, Cordelie`res FP et al: Lis1, Clip-170's key to the dynein/ dynactin pathway. Mol Cell Biol 2002; 22: 3089-3102.

    7 Komarova YA, Akhmanova AS, Kojima S-I, Galjart N, Borisy GG: Cytoplasmic linker proteins promote microtubule rescue in vivo. J Cell Biol 2002; 159: 589-599.

    8 Akhmanova A, Mausset-Bonnefont A-L, Van Cappellen W et al: The microtubule plus-end-tracking protein clip-170 associates with the spermatid manchette and is essential for spermatogenesis. Genes Dev 2005; 19: 2501-2515.

    9 Swiech L, Blazejczyk M, Urbanska M et al: Clip-170 and Iqgap1 cooperatively regulate dendrite morphology. J Neurosci 2011; 31: 4555-4568.

    10 Neukirchen D, Bradke F: Cytoplasmic linker proteins regulate neuronal polarization through microtubule and growth cone dynamics. J Neurosci 2011; 31: 1528-1538.

  • Metrics
    No metrics available
Share - Bookmark