(Q34246902)

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Mutations in SLC33A1 cause a lethal autosomal-recessive disorder with congenital cataracts, hearing loss, and low serum copper and ceruloplasmin

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scholarly article

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31 July 2017

Mutations in SLC33A1 cause a lethal autosomal-recessive disorder with congenital cataracts, hearing loss, and low serum copper and ceruloplasmin (English)

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Europe PubMed Central

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31 July 2017

congenital disorder

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Vera M. Kalscheuer

3

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31 July 2017

Gudrun Nürnberg

15

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Gudrun Nürnberg

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Lisbeth Birk Møller

object named as

Lisbeth Birk Møller

18

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John Christodoulou

object named as

John Christodoulou

7

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object named as

Stefan Haas

13

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Peter Nürnberg

16

object named as

Peter Nürnberg

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31 July 2017

author name string

Peter Huppke

1

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31 July 2017

Cornelia Brendel

2

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31 July 2017

Georg Christoph Korenke

4

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31 July 2017

Iris Marquardt

5

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31 July 2017

Peter Freisinger

6

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31 July 2017

Merle Hillebrand

8

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31 July 2017

Gaele Pitelet

9

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31 July 2017

Callum Wilson

10

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31 July 2017

Ursula Gruber-Sedlmayr

11

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31 July 2017

Reinhard Ullmann

12

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31 July 2017

Orly Elpeleg

14

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31 July 2017

Shzeena Dad

17

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31 July 2017

Stephen G Kaler

19

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31 July 2017

Jutta Gärtner

20

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31 July 2017

language of work or name

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publication date

1 January 2012

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31 July 2017

American Journal of Human Genetics

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31 July 2017

90

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31 July 2017

1

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31 July 2017

61-68

1 reference

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31 July 2017

Loss-of-function mutations of ILDR1 cause autosomal-recessive hearing impairment DFNB42

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3257879

6 July 2018

ATP7A-related copper transport diseases-emerging concepts and future trends

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3257879

6 July 2018

Comparative features of copper ATPases ATP7A and ATP7B heterologously expressed in COS-1 cells

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3257879

6 July 2018

AT-1 is the ER membrane acetyl-CoA transporter and is essential for cell viability

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3257879

6 July 2018

A total of 220 patients with autosomal dominant spastic paraplegia do not display mutations in the SLC33A1 gene (SPG42).

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3257879

6 July 2018

Lysine acetylation targets protein complexes and co-regulates major cellular functions

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3257879

6 July 2018

A missense mutation in SLC33A1, which encodes the acetyl-CoA transporter, causes autosomal-dominant spastic paraplegia (SPG42)

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3257879

6 July 2018

Two endoplasmic reticulum (ER)/ER Golgi intermediate compartment-based lysine acetyltransferases post-translationally regulate BACE1 levels

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3257879

6 July 2018

Mechanisms for copper acquisition, distribution and regulation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3257879

6 July 2018

Molecular pathogenesis of Wilson and Menkes disease: correlation of mutations with molecular defects and disease phenotypes

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3257879

6 July 2018

Pathophysiology and clinical features of Wilson disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3257879

6 July 2018

Undetectable intracellular free copper: the requirement of a copper chaperone for superoxide dismutase

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3257879

6 July 2018

Complicated form of spastic paraplegia with congenital cataract: a case report

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3257879

6 July 2018

Expression cloning and characterization of a cDNA encoding a novel membrane protein required for the formation of O-acetylated ganglioside: a putative acetyl-CoA transporter

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3257879

6 July 2018

Isolation of a candidate gene for Menkes disease and evidence that it encodes a copper-transporting ATPase

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3257879

6 July 2018

Isolation of a candidate gene for Menkes disease that encodes a potential heavy metal binding protein

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3257879

6 July 2018

Aceruloplasminemia: molecular characterization of this disorder of iron metabolism

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3257879

6 July 2018

A simple salting out procedure for extracting DNA from human nucleated cells

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3257879

6 July 2018

Phenotypic diversity of Menkes disease in mottled mice is associated with defects in localisation and trafficking of the ATP7A protein

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3257879

28 October 2018

Congenital cataract, muscular hypotonia, developmental delay and sensorineural hearing loss associated with a defect in copper metabolism.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3257879

28 October 2018

Complicated hereditary spastic paraplegia with peripheral neuropathy, optic atrophy and mental retardation.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3257879

28 October 2018

[Hereditary spastic paraplegia associated with congenital cataracts, mental retardation and peripheral neuropathy]

1 reference

https://pubmed.ncbi.nlm.nih.gov/22243965

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1016/J.AJHG.2011.11.030

1 reference

Europe PubMed Central

PubMed publication ID

31 July 2017

PMC publication ID

1 reference

Europe PubMed Central

PubMed publication ID

31 July 2017

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

31 July 2017

ResearchGate publication ID

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