EXOSC8 mutations alter mRNA metabolism and cause hypomyelination with spinal muscular atrophy and cerebellar hypoplasia

Myelin Membrane Wrapping of CNS Axons by PI(3,4,5)P3-Dependent Polarized Growth at the Inner Tongue

(2014) Nicolas Snaidero et al.   CELL

Small nuclear RNAs and mRNAs: linking RNA processing and transport to spinal muscular atrophy

(2013) Judith Sleeman   BIOCHEMICAL SOCIETY TRANSACTIONS

Molecular evolution of myelin basic protein, an abundant structural myelin component

(2013) Schanila Nawaz et al.   GLIA

HomozygousEXOSC3Mutation c.92G→C, p.G31A is a Founder Mutation Causing Severe Pontocerebellar Hypoplasia Type 1 Among the Czech Roma

(2013) Jaroslava Schwabova et al.   JOURNAL OF NEUROGENETICS

EXOSC3 mutations in isolated cerebellar hypoplasia and spinal anterior horn involvement

(2013) Roberta Biancheri et al.   JOURNAL OF NEUROLOGY

Crystal structure of an RNA-bound 11-subunit eukaryotic exosome complex

(2013) Debora Lika Makino et al.   NATURE

Exome sequencing in a family with intellectual disability, early onset spasticity, and cerebellar atrophy detects a novel mutation in EXOSC3

(2013) Ginevra Zanni et al.   NEUROGENETICS

Pontocerebellar hypoplasia type 1: Clinical spectrum and relevance of EXOSC3 mutations

(2013) S. Rudnik-Schoneborn et al.   NEUROLOGY

A new strategy for gene targeting and functional proteomics using the DT40 cell line

(2013) Kinga P. Orlowska et al.   NUCLEIC ACIDS RESEARCH

The Sm Complex Is Required for the Processing of Non-Coding RNAs by the Exosome

(2013) Sarah Coy et al.   PLoS One

Threading the barrel of the RNA exosome

(2013) Claudia Schneider et al.   TRENDS IN BIOCHEMICAL SCIENCES

Systematic approaches to central nervous system myelin

(2012) Patricia de Monasterio-Schrader et al.   CELLULAR AND MOLECULAR LIFE SCIENCES

wANNOVAR: annotating genetic variants for personal genomes via the web

(2012) Xiao Chang et al.   JOURNAL OF MEDICAL GENETICS

Mutations in the RNA exosome component gene EXOSC3 cause pontocerebellar hypoplasia and spinal motor neuron degeneration

(2012) Jijun Wan et al.   NATURE GENETICS

Pelizaeus-Merzbacher Disease, Pelizaeus-Merzbacher-Like Disease 1, and Related Hypomyelinating Disorders

(2012) Grace Hobson et al.   SEMINARS IN NEUROLOGY

RNA processing in human mitochondria

(2011) Maria I.G. Lopez Sanchez et al.   CELL CYCLE

Impairment of the tRNA-splicing endonuclease subunit 54 (tsen54) gene causes neurological abnormalities and larval death in zebrafish models of pontocerebellar hypoplasia

(2011) Paul R. Kasher et al.   HUMAN MOLECULAR GENETICS

Classification, diagnosis and potential mechanisms in Pontocerebellar Hypoplasia

(2011) Yasmin Namavar et al.   Orphanet Journal of Rare Diseases

Processive RNA decay by the exosome

(2011) Theresa Niederberger et al.   RNA Biology

Subcellular localization of RNA degrading proteins and protein complexes in prokaryotes

(2011) Elena Evguenieva-Hackenberg et al.   RNA Biology

Dindel: Accurate indel calls from short-read data

(2010) C. A. Albers et al.   GENOME RESEARCH

PLP/DM20 Expression and turnover in a transgenic mouse model of pelizaeus-merzbacher disease

(2010) Saadia A. Karim et al.   GLIA

In vivo analysis of mtDNA replication defects in yeast

(2010) Enrico Baruffini et al.   METHODS

Quantitative analysis of processive RNA degradation by the archaeal RNA exosome

(2010) Sophia Hartung et al.   NUCLEIC ACIDS RESEARCH

VarScan: variant detection in massively parallel sequencing of individual and pooled samples

(2009) Daniel C. Koboldt et al.   BIOINFORMATICS

The Sequence Alignment/Map format and SAMtools

(2009) H. Li et al.   BIOINFORMATICS

Fast and accurate short read alignment with Burrows-Wheeler transform

(2009) H. Li et al.   BIOINFORMATICS

Functional study in a yeast model of a novel succinate dehydrogenase subunit B gene germline missense mutation (C191Y) diagnosed in a patient affected by a glomus tumor

(2009) P. Goffrini et al.   HUMAN MOLECULAR GENETICS

Kif1b is essential for mRNA localization in oligodendrocytes and development of myelinated axons

(2009) David A Lyons et al.   NATURE GENETICS

HomozygosityMapper--an interactive approach to homozygosity mapping

(2009) D. Seelow et al.   NUCLEIC ACIDS RESEARCH

Ultrafast and memory-efficient alignment of short DNA sequences to the human genome

(2009) Ben Langmead et al.   GENOME BIOLOGY

Rrp4 and Csl4 Are Needed for Efficient Degradation but Not for Polyadenylation of Synthetic and Natural RNA by the Archaeal Exosome†

(2008) Elena Evguenieva-Hackenberg et al.   BIOCHEMISTRY

Zebrafish myelination: a transparent model for remyelination?

(2008) C. E. Buckley et al.   Disease Models & Mechanisms