Mutations in SPATA5 Are Associated with Microcephaly, Intellectual Disability, Seizures, and Hearing Loss (Q28118528)

GOA release 2020-03-11

brain development

1 reference

disability affecting intellectual abilities

GOA release 2020-03-11

hearing loss

1 reference

based on heuristic

inferred from title

intellectual disability

1 reference

based on heuristic

inferred from title

1 reference

20

Ada Hamosh

1 reference

4 January 2017

Xilma R Ortiz-Gonzalez

object named as

Xilma Ortiz-Gonzalez

12

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Katherine Mathews

object named as

Katherine Mathews

13

0 references

Jane Juusola

4

object named as

Jane Juusola

1 reference

4 January 2017

Akemi J. Tanaka

1

1 reference

4 January 2017

Megan T. Cho

2

1 reference

4 January 2017

Francisca Millan

3

1 reference

4 January 2017

Kyle Retterer

5

1 reference

4 January 2017

Charuta Joshi

6

1 reference

4 January 2017

Dmitriy Niyazov

7

1 reference

4 January 2017

Adolfo Garnica

8

1 reference

4 January 2017

Edward Gratz

9

1 reference

4 January 2017

Matthew Deardorff

10

1 reference

4 January 2017

Alisha Wilkins

11

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4 January 2017

Karin Panzer

14

1 reference

4 January 2017

Eva Brilstra

15

1 reference

4 January 2017

Koen L. I. van Gassen

16

1 reference

4 January 2017

Catharina M. L. Volker-Touw

17

1 reference

4 January 2017

Ellen van Binsbergen

18

1 reference

4 January 2017

Nara Sobreira

19

1 reference

4 January 2017

Dianalee McKnight

21

1 reference

4 January 2017

Kristin G. Monaghan

22

1 reference

4 January 2017

Wendy K. Chung

American Journal of Human Genetics

23

1 reference

4 January 2017

language of work or name

English

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publication date

3 September 2015

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4 January 2017

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4 January 2017

97

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4 January 2017

457–464

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4 January 2017

3

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4 January 2017

Spastic paraplegia and OXPHOS impairment caused by mutations in paraplegin, a nuclear-encoded mitochondrial metalloprotease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4564988

De novo mutations in epileptic encephalopathies

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4564988

Fast and accurate short read alignment with Burrows-Wheeler transform

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4564988

The Sequence Alignment/Map format and SAMtools

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4564988

Cytoplasmic recycling of 60S preribosomal factors depends on the AAA protein Drg1.

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4564988

Proteomics of protein post-translational modifications implicated in neurodegeneration

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4564988

SPAF, a new AAA-protein specific to early spermatogenesis and malignant conversion

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4564988

A proteome-wide, quantitative survey of in vivo ubiquitylation sites reveals widespread regulatory roles

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4564988

A framework for variation discovery and genotyping using next-generation DNA sequencing data

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4564988

An anatomically comprehensive atlas of the adult human brain transcriptome

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4564988

AAA+ proteins: have engine, will work

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4564988

Synaptic mitochondria: a brain mitochondria cluster with a specific proteome.

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4564988

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4564988

CODAS syndrome is associated with mutations of LONP1, encoding mitochondrial AAA+ Lon protease.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4564988

Molecular findings among patients referred for clinical whole-exome sequencing

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4564988

Genome sequencing identifies major causes of severe intellectual disability

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4564988

A COFRADIC protocol to study protein ubiquitination

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4564988

Transcriptional landscape of the prenatal human brain

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4564988

Clinical whole-exome sequencing for the diagnosis of mendelian disorders

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4564988

Mitotic spindle (DIS)orientation and DISease: cause or consequence?

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4564988

Exome sequencing supports a de novo mutational paradigm for schizophrenia.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4564988

AAA+ proteases: ATP-fueled machines of protein destruction

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4564988

Mitochondria in neuroplasticity and neurological disorders

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4564988

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4564988

Mutation analysis of the paraplegin gene (SPG7) in patients with hereditary spastic paraplegia

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4564988

The drug diazaborine blocks ribosome biogenesis by inhibiting the AAA-ATPase Drg1.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4564988

Exploring single-sample SNP and INDEL calling with whole-genome de novo assembly

2 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4564988

Genotype-phenotype correlations in spastic paraplegia type 7: a study in a large Dutch cohort.

2 June 2018

1 reference