Recessive PRDM13 mutations cause fatal perinatal brainstem dysfunction with cerebellar hypoplasia and disrupt Purkinje cell differentiation

Recessive PRDM13 mutations cause fatal perinatal brainstem dysfunction with cerebellar hypoplasia and disrupt Purkinje cell differentiation

Pontocerebellar hypoplasias (PCHs) are congenital disorders characterized by hypoplasia or early atrophy of the cerebellum and brainstem, leading to a very limited motor and cognitive development. Although over 20 genes have been shown to be mutated in PCHs, a large proportion of affected individual...

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Main Authors: Afenjar, A. (Author), Al-Maawali, A. (Author), Al-Thihli, K. (Author), Altin, N. (Author), Baptista, J. (Author), Barcia, G. (Author), Beleza-Meireles, A. (Author), Billette de Villemeur, T. (Author), Boddaert, N. (Author), Burglen, L. (Author), Cantagrel, V. (Author), Coolen, M. (Author), Garel, C. (Author), Gelot, A. (Author), Laquerrière, A. (Author), Legendre, M. (Author), Moreno, N. (Author), Moutton, S. (Author), Nitschké, P. (Author), Pereira, E. (Author), Pouliet, A. (Author), Puig Lombardi, E. (Author), Rajamani, K. (Author), Rausell, A. (Author), Razavi, F. (Author), Siquier-Pernet, K. (Author), Yvert, M. (Author)
Format: Article
Language:English
Published: Cell Press 2022
Subjects:
brainstem
cerebellum
inferior olive nuclei
neurodevelopment
neuronal specification
olivopontocerebellar hypoplasia
PRDM13
Purkinje cells
zebrafish
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