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Literature DB >> 25061188

Molecular biology. Ribosome rescue and neurodegeneration.

Jennifer C Darnell.

Abstract

Entities: Disease

Mesh：

Substances：

Year: 2014 PMID： 25061188 DOI： 10.1126/science.1257193

Source DB: PubMed Journal: Science ISSN： 0036-8075 Impact factor: 47.728

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7 in total

1. Clinical and genetic spectrum of AMPD2-related pontocerebellar hypoplasia type 9.

Authors: Fanny Kortüm; Rami Abou Jamra; Malik Alawi; Susan A Berry; Guntram Borck; Katherine L Helbig; Sha Tang; Dagmar Huhle; Georg Christoph Korenke; Malavika Hebbar; Anju Shukla; Katta M Girisha; Maja Steinlin; Sandra Waldmeier-Wilhelm; Martino Montomoli; Renzo Guerrini; Johannes R Lemke; Kerstin Kutsche
Journal: Eur J Hum Genet Date: 2018-02-20 Impact factor: 4.246

2. Biallelic inactivating variants in the GTPBP2 gene cause a neurodevelopmental disorder with severe intellectual disability.

Authors: Aida M Bertoli-Avella; Jose M Garcia-Aznar; Oliver Brandau; Fahad Al-Hakami; Zafer Yüksel; Anett Marais; Nana-Maria Grüning; Lia Abbasi Moheb; Omid Paknia; Nahla Alshaikh; Seham Alameer; Makia J Marafi; Fahd Al-Mulla; Nouriya Al-Sannaa; Arndt Rolfs; Peter Bauer
Journal: Eur J Hum Genet Date: 2018-02-15 Impact factor: 4.246

Molecular biology. Ribosome rescue and neurodegeneration.

1. Clinical and genetic spectrum of AMPD2-related pontocerebellar hypoplasia type 9.

2. Biallelic inactivating variants in the GTPBP2 gene cause a neurodevelopmental disorder with severe intellectual disability.

Review 3. Pausing on Polyribosomes: Make Way for Elongation in Translational Control.

4. Regulatory BC1 RNA in cognitive control.

5. Effects of regulatory BC1 RNA deletion on synaptic plasticity, learning, and memory.

6. Autoimmune RNA dysregulation and seizures: therapeutic prospects in neuropsychiatric lupus.

7. High Expression of RIOK2 and NOB1 Predict Human Non-small Cell Lung Cancer Outcomes.