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EXOSC8 mutations alter mRNA metabolism and cause hypomyelination with spinal muscular atrophy and cerebellar hypoplasia.
Veronika Boczonadi, Juliane S Müller, Angela Pyle, Jennifer Munkley, Talya Dor, Jade Quartararo, Ileana Ferrero, Veronika Karcagi, Michele Giunta, Tuomo Polvikoski, Daniel Birchall, Agota Princzinger, Yuval Cinnamon, Susanne Lützkendorf, Henriett Piko, Mojgan Reza, Laura Florez, Mauro Santibanez-Koref, Helen Griffin, Markus Schuelke, Orly Elpeleg, Luba Kalaydjieva, Hanns Lochmüller, David J Elliott, Patrick F Chinnery, Shimon Edvardson, Rita Horvath
Mar 07, 2019
The exosome is a multi-protein complex, required for the degradation of AU-rich element (ARE) containing messenger RNAs (mRNAs). EXOSC8 is an essential protein of the exosome core, as its depletion causes a severe growth defect...
Agenesis of Corpus Callosum Amino Acid Sequence Animals cerebellum Cerebral Cortex Developmental Disabilities Exosome Multienzyme Ribonuclease Complex Female Fungal Proteins Gene Expression Gene Knockdown Techniques Hereditary Central Nervous System Demyelinating Diseases Homozygote Humans Infant Male Molecular Sequence Data Nervous System Malformations RNA-Binding Proteins Sequence Analysis DNA Spinal Muscular Atrophies of Childhood Syndrome Zebrafish