Wednesday, November 28, 2012

Complex Hereditary Spastic Paraplegia. Supporting evidence in fly. Recent report.

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