(Q36369946)

13 August 2017

SLC39A8 Deficiency: A Disorder of Manganese Transport and Glycosylation (English)

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13 August 2017

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8

Kym M Boycott

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13 August 2017

17

Heymut Omran

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13 August 2017

18

Frank Rutsch

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13 August 2017

9

Chandree L Beaulieu

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13 August 2017

11

A Micheil Innes

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13 August 2017

Julien H Park

1

1 reference

13 August 2017

Max Hogrebe

2

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13 August 2017

Marianne Grüneberg

3

1 reference

13 August 2017

Ingrid DuChesne

4

1 reference

13 August 2017

Ava L von der Heiden

5

1 reference

13 August 2017

Janine Reunert

6

1 reference

13 August 2017

Karl P Schlingmann

7

1 reference

13 August 2017

Aziz A Mhanni

10

1 reference

13 August 2017

Konstanze Hörtnagel

12

1 reference

13 August 2017

Saskia Biskup

13

1 reference

13 August 2017

Eva M Gleixner

14

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13 August 2017

Gerhard Kurlemann

15

1 reference

13 August 2017

Barbara Fiedler

16

1 reference

13 August 2017

Yoshinao Wada

19

1 reference

13 August 2017

Konstantinos Tsiakas

20

1 reference

13 August 2017

René Santer

21

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13 August 2017

Daniel W Nebert

22

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13 August 2017

Stephan Rust

23

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13 August 2017

Thorsten Marquardt

24

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13 August 2017

language of work or name

English

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publication date

1 December 2015

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American Journal of Human Genetics

13 August 2017

1 reference

13 August 2017

97

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13 August 2017

6

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13 August 2017

894-903

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

13 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4678430

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

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4678430

Multiple phenotypes in phosphoglucomutase 1 deficiency

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4678430

Manganese in health and disease

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4678430

30 September 2017

Manganese and the brain

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4678430

Mosaicism of the UDP-galactose transporter SLC35A2 causes a congenital disorder of glycosylation

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4678430

Understanding human glycosylation disorders: biochemistry leads the charge

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4678430

ZIP8 is an iron and zinc transporter whose cell-surface expression is up-regulated by cellular iron loading

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4678430

ZIP8 zinc transporter: indispensable role for both multiple-organ organogenesis and hematopoiesis in utero

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4678430

Syndrome of hepatic cirrhosis, dystonia, polycythemia, and hypermanganesemia caused by mutations in SLC30A10, a manganese transporter in man

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4678430

Mutations in SLC30A10 cause parkinsonism and dystonia with hypermanganesemia, polycythemia, and chronic liver disease

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4678430

Physiologic implications of metal-ion transport by ZIP14 and ZIP8

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4678430

Generation of a Slc39a8 hypomorph mouse: markedly decreased ZIP8 Zn²⁺/(HCO₃⁻)₂ transporter expression

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4678430

Manganese accumulation in the CNS and associated pathologies.

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4678430

Congenital disorders of glycosylation (CDG): it's (nearly) all in it!

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4678430

Plasma N-glycan profiling by mass spectrometry for congenital disorders of glycosylation type II.

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4678430

Transferrin fusion technology: a novel approach to prolonging biological half-life of insulinotropic peptides

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4678430

Crystal structures of mammalian glutamine synthetases illustrate substrate-induced conformational changes and provide opportunities for drug and herbicide design

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4678430

Zinc transporters and the cellular trafficking of zinc

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4678430

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

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4678430

The United Kingdom Infantile Spasms Study comparing vigabatrin with prednisolone or tetracosactide at 14 days: a multicentre, randomised controlled trial

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4678430

Congenital disorders of glycosylation: review of their molecular bases, clinical presentations and specific therapies

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4678430

The galactosyltransferase family

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4678430

Deficiency of UDP-galactose:N-acetylglucosamine beta-1,4-galactosyltransferase I causes the congenital disorder of glycosylation type IId.

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4678430

Galactosylation of N-linked oligosaccharides by human beta-1,4-galactosyltransferases I, II, III, IV, V, and VI expressed in Sf-9 cells

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4678430

Nutritional aspects of manganese from experimental studies.

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4678430

Isolation of novel tissue-specific genes from cDNA libraries representing the individual tissue constituents of the gastrulating mouse embryo.

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4678430

Essential trace metals in man: manganese. A study in homeostasis

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4678430

Manganese Metabolism and Its Function1

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4678430

Analysis and update of the human solute carrier (SLC) gene superfamily

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4678430

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

28 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4678430

A longitudinal study of cognitive functioning in patients with classical galactosaemia, including a cohort treated with oral uridine.

28 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4678430

Role of manganese in mucopolysaccharide metabolism.

28 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4678430

ADP, chloride ion, and metal ion binding to bovine brain glutamine synthetase

28 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4678430

Assessment of the role of manganese in congenital joint laxity and dwarfism in calves

28 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4678430

A new case of UDP-galactose transporter deficiency (SLC35A2-CDG): molecular basis, clinical phenotype, and therapeutic approach.

28 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4678430

MutationTaster2: mutation prediction for the deep-sequencing age.

21 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4678430

Combined microarray analysis uncovers self-renewal related signaling in mouse embryonic stem cells

21 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4678430

Identification of molecular markers that are expressed in discrete anterior-posterior domains of the endoderm from the gastrula stage to mid-gestation.

21 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4678430

The novel transferrin E592A variant impairs the diagnostics of congenital disorders of glycosylation

21 September 2018

1 reference

12 December 2020

Purification of human hepatic arginase and its manganese (II)-dependent and pH-dependent interconversion between active and inactive forms: a possible pH-sensing function of the enzyme on the ornithine cycle

1 reference

12 December 2020

Submicromolar manganese dependence of Golgi vesicular galactosyltransferase (lactose synthetase)

1 reference

12 December 2020

Transferrin variants: pitfalls in the diagnostics of Congenital disorders of glycosylation

1 reference

12 December 2020

Metal ion activation of galactosyltransferase

1 reference

12 December 2020

Manganese deficiency in humans: fact or fiction?

1 reference

12 December 2020

Estimation of the relative bioavailability of manganese sources for sheep

1 reference

12 December 2020

10.1016/J.AJHG.2015.11.003

Identifiers

DOI

1 reference

13 August 2017

1 reference

13 August 2017

PubMed publication ID

26637979

1 reference