These authors state in the abstract that "An essential role for DDHD2 in the human CNS, and perhaps more specifically in synaptic functioning, is supported by a reduced number of active zones at synaptic terminals in Ddhd-knockdown Drosophila models."
Schuurs-Hoeijmakers JH, Geraghty MT, Kamsteeg EJ, Ben-Salem S, de Bot ST,
Nijhof B, van de Vondervoort II, van der Graaf M, Nobau AC, Otte-Höller I,
Vermeer S, Smith AC, Humphreys P, Schwartzentruber J; FORGE Canada Consortium,
Ali BR, Al-Yahyaee SA, Tariq S, Pramathan T, Bayoumi R, Kremer HP, van de
Warrenburg BP, van den Akker WM, Gilissen C, Veltman JA, Janssen IM, Vulto-van
Silfhout AT, van der Velde-Visser S, Lefeber DJ, Diekstra A, Erasmus CE,
Willemsen MA, Vissers LE, Lammens M, van Bokhoven H, Brunner HG, Wevers RA,
Schenck A, Al-Gazali L, de Vries BB, de Brouwer AP. Mutations in DDHD2, Encoding
an Intracellular Phospholipase A(1), Cause a Recessive Form of Complex Hereditary
Spastic Paraplegia. Am J Hum Genet. 2012 Nov 20. doi:pii: S0002-9297(12)00576-9.
10.1016/j.ajhg.2012.10.017. PubMed PMID: 23176823.
You can view associated human diseases and read about hereditary spastic paraplegias at NCBI's Gene Reviews.
No comments:
Post a Comment