About: Mutations in SPATA5 Are Associated with Microcephaly, Intellectual Disability, Seizures, and Hearing Loss

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scientific journal article

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rdf:type	Item
description	artículu científicu espublizáu en 2015 (ast) article scientifique publié en 2015 (fr) vědecký článek publikovaný v roce 2015 (cs) 2015 թվականի սեպտեմբերին հրատարակված գիտական հոդված (hy) 2015 թուականի Սեպտեմբերին հրատարակուած գիտական յօդուած (hyw) наукова стаття, опублікована у вересні 2015 (uk) vedecký článok (publikovaný 2015/09/03) (sk) مقالة علمية (نشرت في 3-9-2015) (ar) wetenschappelijk artikel (gepubliceerd op 2015/09/03) (nl) im September 2015 veröffentlichter wissenschaftlicher Artikel (de) scientific journal article (en)
publication date	wds:Q28118528-2777077B-6F42-41D8-AFC4-F94585B3999F
publication date	2015-09-03 00:00:00Z (xsd:dateTime)
language of work or name	wds:Q28118528-6A8ABDB0-FBDE-40A4-86D0-4534726DC791
language of work or name	English
cites work	wds:Q28118528-0109D3B5-F33F-49B1-82AD-215BC02EA54A wds:Q28118528-204FC271-BA16-4296-BF40-4B9F9EE3DB27 wds:Q28118528-28EE1FC1-32CD-462B-8ABA-732567118FC8 wds:Q28118528-3C43965E-9847-4E92-8911-94DABF27BEFC wds:Q28118528-3C89A660-5F73-40A5-BE2C-526963688E86 wds:Q28118528-3E7CCA38-B846-4A0E-8B8F-5170A888AB72 wds:Q28118528-403CDB35-EFCE-4DDB-8833-E801158BCC03 wds:Q28118528-541F7F6D-2D3B-461A-BD60-0234EF4B1B93 wds:Q28118528-5F846306-3498-42C1-A457-41618529D621 wds:Q28118528-669004EE-64EA-41AB-B407-464F1E80E985 wds:Q28118528-703E51C9-803D-4F11-A068-1E9B54BFD73A wds:Q28118528-7A9D0549-BE71-428A-83C4-2732CE122019 wds:Q28118528-81F2AAF0-8BA8-4031-ADF7-572FB077F0E2 wds:Q28118528-9A30C469-AB59-4F78-B074-E9FCFD71170F wds:Q28118528-A97CA51D-C6DA-4E0D-9580-83B9DDAD1364 wds:Q28118528-BE5F42DB-03C8-4D64-9CD5-EA9D0CE577FD wds:Q28118528-C16F3B62-1003-4270-AD1D-5D5974682292 wds:Q28118528-CFD0BE42-A1FE-49C1-943A-4C2E8584C9CC wds:Q28118528-D0CB0784-D74D-4283-A2AB-E6CB76EB49F2 wds:Q28118528-D314E93F-2676-4FA0-8F54-AA5D573E7F45 wds:Q28118528-D4C28818-2E02-4B9A-B6CC-EF7DEC8F6A2F wds:Q28118528-DFB3E8B8-3360-44DA-87F7-C61DA49C23DC wds:Q28118528-EB6E8D6F-83BE-4381-8E22-FF6D9FAD41EB wds:Q28118528-EC13C430-25C8-4C4B-ACA9-FE19E010A5FE wds:Q28118528-EC277566-563B-4D2A-B6F9-CF4554580F01 wds:Q28118528-EF1CCAFB-E1DB-497F-8547-64B74E57341D wds:Q28118528-F3206D0F-3C9C-4959-9325-74015A0E6110 wds:Q28118528-FE9B80D7-D2A7-420A-B939-038FA4329167
cites work	Molecular findings among patients referred for clinical whole-exome sequencing Cytoplasmic recycling of 60S preribosomal factors depends on the AAA protein Drg1. Transcriptional landscape of the prenatal human brain CODAS syndrome is associated with mutations of LONP1, encoding mitochondrial AAA+ Lon protease. Mitotic spindle (DIS)orientation and DISease: cause or consequence? A COFRADIC protocol to study protein ubiquitination AAA+ proteases: ATP-fueled machines of protein destruction An anatomically comprehensive atlas of the adult human brain transcriptome Spastic paraplegia and OXPHOS impairment caused by mutations in paraplegin, a nuclear-encoded mitochondrial metalloprotease A proteome-wide, quantitative survey of in vivo ubiquitylation sites reveals widespread regulatory roles De novo mutations in epileptic encephalopathies Genome sequencing identifies major causes of severe intellectual disability The Sequence Alignment/Map format and SAMtools Clinical whole-exome sequencing for the diagnosis of mendelian disorders Fast and accurate short read alignment with Burrows-Wheeler transform A framework for variation discovery and genotyping using next-generation DNA sequencing data AAA+ proteins: have engine, will work Mitochondria in neuroplasticity and neurological disorders Exploring single-sample SNP and INDEL calling with whole-genome de novo assembly Proteomics of protein post-translational modifications implicated in neurodegeneration SPAF, a new AAA-protein specific to early spermatogenesis and malignant conversion Exome sequencing supports a de novo mutational paradigm for schizophrenia. New tools for Mendelian disease gene identification: PhenoDB variant analysis module; and GeneMatcher, a web-based tool for linking investigators with an interest in the same gene Mutation analysis of the paraplegin gene (SPG7) in patients with hereditary spastic paraplegia An Afg2/Spaf-related Cdc48-like AAA ATPase regulates the stability and activity of the C. elegans Aurora B kinase AIR-2 Synaptic mitochondria: a brain mitochondria cluster with a specific proteome. The drug diazaborine blocks ribosome biogenesis by inhibiting the AAA-ATPase Drg1. Genotype-phenotype correlations in spastic paraplegia type 7: a study in a large Dutch cohort.
author name string	wds:Q28118528-17188491-9093-4A32-83D2-A677BD495418 wds:Q28118528-23B59E4A-AA20-474F-9B16-A9E48DC8B1DF wds:Q28118528-3B473D30-0391-4BD4-BDF8-08540445694A wds:Q28118528-3D95F563-80A5-4681-829B-D6BA1ECE6090 wds:Q28118528-4A774FE9-D156-4A2B-8209-DEB84931CD3F wds:Q28118528-58904C4B-CF5B-4B0A-A8A0-43404D65146A wds:Q28118528-598071BE-79A7-4A30-A142-C2F3823CACE8 wds:Q28118528-63DB167F-0F41-4412-A56F-2AD66A08F610 wds:Q28118528-64BC0C4F-A476-415B-8371-D5B541CD5CF2 wds:Q28118528-6586B7D7-DF73-4A2A-A2D4-DE515BB93408 wds:Q28118528-69CD4D0C-2D1A-4068-9C4E-957794278C49 wds:Q28118528-6ACC0346-3FEC-45D0-AA8E-731DE77F6DC5 wds:Q28118528-775F2756-3E18-4A2E-8A21-43F69FE4AA0F wds:Q28118528-865756D9-3933-4F52-ADC3-EFA9165D9132 wds:Q28118528-A1A23761-36A5-483F-92F4-005DBC4B10E6 wds:Q28118528-AD520F0E-4280-4647-90D7-69D00ACD8BF9 wds:Q28118528-C6BC2D76-E31D-459F-829E-EA7764EEBAA2 wds:Q28118528-C9CFB5C3-9903-43EE-A9EF-5D59D0ADDE90 wds:Q28118528-FC6E4579-E17B-44E3-A927-4BD8AC095175
OpenCitations bibliographic resource ID	wds:Q28118528-370ABF93-A94E-4E99-A9D7-AF24196301A9
OpenCitations bibliographic resource ID	https://w3id.org/oc/corpus/br/712803
author name string	Ellen van Binsbergen Adolfo Garnica Akemi J. Tanaka Alisha Wilkins Catharina M. L. Volker-Touw Charuta Joshi Dianalee McKnight

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