title: tRNA splicing endonuclease mutations cause pontocerebellar hypoplasia.
abstract: Pontocerebellar hypoplasias (PCH) represent a group of neurodegenerative autosomal recessive disorders with prenatal onset, atrophy or hypoplasia of the cerebellum, hypoplasia of the ventral pons, microcephaly, variable neocortical atrophy and severe mental and motor impairments. In two subtypes, PCH2 and PCH4, we identified mutations in three of the four different subunits of the tRNA-splicing endonuclease complex. Our findings point to RNA processing as a new basic cellular impairment in neurological disorders.
authors: Cologne Center for Genomics and Institute for Genetics, University of Cologne, Cologne, Germany.
authors: Birgit S
authors: BS
authors: Budde
authors: Yasmin
authors: Y
authors: Namavar
authors: Peter G
authors: PG
authors: Barth
authors: Bwee Tien
authors: BT
authors: Poll-The
authors: Gudrun
authors: G
authors: Nürnberg
authors: Christian
authors: C
authors: Becker
authors: Fred
authors: F
authors: van Ruissen
authors: Marian A J
authors: MA
authors: Weterman
authors: Kees
authors: K
authors: Fluiter
authors: Erik T
authors: ET
authors: te Beek
authors: Eleonora
authors: E
authors: Aronica
authors: Marjo S
authors: MS
authors: van der Knaap
authors: Wolfgang
authors: W
authors: Höhne
authors: Mohammad Reza
authors: MR
authors: Toliat
authors: Yanick J
authors: YJ
authors: Crow
authors: Maja
authors: M
authors: Steinling
authors: Thomas
authors: T
authors: Voit
authors: Filip
authors: F
authors: Roelenso
authors: Wim
authors: W
authors: Brussel
authors: Knut
authors: K
authors: Brockmann
authors: Marten
authors: M
authors: Kyllerman
authors: Eugen
authors: E
authors: Boltshauser
authors: Gerhard
authors: G
authors: Hammersen
authors: Michèl
authors: M
authors: Willemsen
authors: Lina
authors: L
authors: Basel-Vanagaite
authors: Ingeborg
authors: I
authors: Krägeloh-Mann
authors: Linda S
authors: LS
authors: de Vries
authors: Laszlo
authors: L
authors: Sztriha
authors: Francesco
authors: F
authors: Muntoni
authors: Colin D
authors: CD
authors: Ferrie
authors: Roberta
authors: R
authors: Battini
authors: Raoul C M
authors: RC
authors: Hennekam
authors: Eugenio
authors: E
authors: Grillo
authors: Frits A
authors: FA
authors: Beemer
authors: Loes M E
authors: LM
authors: Stoets
authors: Bernd
authors: B
authors: Wollnik
authors: Peter
authors: P
authors: Nürnberg
authors: Frank
authors: F
authors: Baas
mesh_terms: D001921:Brain / Q000378:metabolism; D002531:Cerebellum / Q000002:abnormalities*; D002874:Chromosome Mapping; D002886:Chromosomes, Human, Pair 17; D004722:Endoribonucleases / Q000235:genetics*; D006801:Humans; D008958:Models, Molecular; D009154:Mutation; D020641:Polymorphism, Single Nucleotide; D011149:Pons / Q000002:abnormalities*; D013577:Syndrome
chemical_list: D004722:Endoribonucleases; C051012:splicing endonuclease