A SLC39A8 variant causes manganese deficiency, and glycosylation and mitochondrial disorders. (Q42503266)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27995398%20AND%20SRC:MED&resulttype=core&format=json

30 March 2020

title

A SLC39A8 variant causes manganese deficiency, and glycosylation and mitochondrial disorders (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27995398%20AND%20SRC:MED&resulttype=core&format=json

30 March 2020

1 reference

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27995398%20AND%20SRC:MED&resulttype=core&format=json

30 March 2020

David Thorburn

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27995398%20AND%20SRC:MED&resulttype=core&format=json

30 March 2020

John Christodoulou

10

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27995398%20AND%20SRC:MED&resulttype=core&format=json

30 March 2020

Shanti Balasubramaniam

9

object named as

Shanti Balasubramaniam

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27995398%20AND%20SRC:MED&resulttype=core&format=json

30 March 2020

1

Lisa G Riley

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27995398%20AND%20SRC:MED&resulttype=core&format=json

30 March 2020

author name string

Velimir Gayevskiy

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27995398%20AND%20SRC:MED&resulttype=core&format=json

30 March 2020

Tony Roscioli

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27995398%20AND%20SRC:MED&resulttype=core&format=json

30 March 2020

Kristina Prelog

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27995398%20AND%20SRC:MED&resulttype=core&format=json

30 March 2020

Melanie Bahlo

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27995398%20AND%20SRC:MED&resulttype=core&format=json

30 March 2020

Carolyn M Sue

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27995398%20AND%20SRC:MED&resulttype=core&format=json

30 March 2020

publication date

19 December 2016

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27995398%20AND%20SRC:MED&resulttype=core&format=json

Journal of Inherited Metabolic Disease

30 March 2020

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27995398%20AND%20SRC:MED&resulttype=core&format=json

30 March 2020

volume

40

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27995398%20AND%20SRC:MED&resulttype=core&format=json

30 March 2020

page(s)

261-269

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27995398%20AND%20SRC:MED&resulttype=core&format=json

30 March 2020

issue

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27995398%20AND%20SRC:MED&resulttype=core&format=json

https://scigraph.springernature.com/pub.10.1007/s10545-016-0010-6

30 March 2020

exact match

0 references

cites work

Handling marker-marker linkage disequilibrium: pedigree analysis with clustered markers

1 reference

https://api.crossref.org/works/10.1007%2FS10545-016-0010-6

Generating linkage mapping files from Affymetrix SNP chip data

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-016-0010-6

The human zinc transporter SLC39A8 (Zip8) is critical in zinc-mediated cytoprotection in lung epithelia

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-016-0010-6

Abnormal Glycosylation Profile and High Alpha-Fetoprotein in a Patient with Twinkle Variants.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-016-0010-6

Autosomal-Recessive Intellectual Disability with Cerebellar Atrophy Syndrome Caused by Mutation of the Manganese and Zinc Transporter Gene SLC39A8.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-016-0010-6

MitoCarta2.0: an updated inventory of mammalian mitochondrial proteins

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-016-0010-6

Mutations in iron-sulfur cluster scaffold genes NFU1 and BOLA3 cause a fatal deficiency of multiple respiratory chain and 2-oxoacid dehydrogenase enzymes

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-016-0010-6

Biochemical analyses of the electron transport chain complexes by spectrophotometry.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-016-0010-6

Homozygous missense mutation in BOLA3 causes multiple mitochondrial dysfunctions syndrome in two siblings

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-016-0010-6

Investigating the role of transferrin in the distribution of iron, manganese, copper, and zinc

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-016-0010-6

Manganese superoxide dismutase: guardian of the powerhouse

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-016-0010-6

Manganese is the link between frataxin and iron-sulfur deficiency in the yeast model of Friedreich ataxia.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-016-0010-6

Leigh syndrome: One disorder, more than 75 monogenic causes

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-016-0010-6

Neurodegeneration, myocardial injury, and perinatal death in mitochondrial superoxide dismutase-deficient mice

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-016-0010-6

Analysis of protein-coding genetic variation in 60,706 humans

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-016-0010-6

Mutations in LYRM4, encoding iron-sulfur cluster biogenesis factor ISD11, cause deficiency of multiple respiratory chain complexes

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-016-0010-6

GDF-15 Is Elevated in Children with Mitochondrial Diseases and Is Induced by Mitochondrial Dysfunction.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-016-0010-6

A mitochondrial protein compendium elucidates complex I disease biology

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-016-0010-6

GEMINI: integrative exploration of genetic variation and genome annotations

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-016-0010-6

SLC39A8 Deficiency: A Disorder of Manganese Transport and Glycosylation

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-016-0010-6

Structural snapshots of beta-1,4-galactosyltransferase-I along the kinetic pathway

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-016-0010-6

Acylcarnitine profiles in fibroblasts from patients with respiratory chain defects can resemble those from patients with mitochondrial fatty acid beta-oxidation disorders

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-016-0010-6

21 January 2018

Manganese and the brain

1 reference

https://api.crossref.org/works/10.1007%2FS10545-016-0010-6

Mitochondrial disease criteria: Diagnostic applications in children

21 January 2018

1 reference

12 December 2020

Carbohydrate-deficient transferrin isoforms measured by capillary zone electrophoresis for detection of alcohol abuse.

1 reference

12 December 2020

ZIP8, member of the solute-carrier-39 (SLC39) metal-transporter family: characterization of transporter properties

1 reference

12 December 2020

Analysis of protein-coding genetic variation in 60,706 humans

1 reference

12 December 2020