(Q28588664)

31 January 2017

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17166836%20AND%20SRC:MED&resulttype=core&format=json

23 December 2019

title

NIPA1(SPG6), the basis for autosomal dominant form of hereditary spastic paraplegia, encodes a functional Mg2+ transporter (English)

2 references

31 January 2017

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17166836%20AND%20SRC:MED&resulttype=core&format=json

Non imprinted in Prader-Willi/Angelman syndrome 1 homolog (human)

23 December 2019

main subject

1 reference

hereditary spastic paraplegia

GOA release 2020-03-11

1 reference

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17166836%20AND%20SRC:MED&resulttype=core&format=json

23 December 2019

Angela Goytain

2 references

31 January 2017

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17166836%20AND%20SRC:MED&resulttype=core&format=json

23 December 2019

Alaa El-Husseini

series ordinal

2 references

31 January 2017

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17166836%20AND%20SRC:MED&resulttype=core&format=json

23 December 2019

Gary A Quamme

series ordinal

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17166836%20AND%20SRC:MED&resulttype=core&format=json

23 December 2019

language of work or name

English

0 references

publication date

13 December 2006

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17166836%20AND%20SRC:MED&resulttype=core&format=json

Journal of Biological Chemistry

23 December 2019

published in

2 references

31 January 2017

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17166836%20AND%20SRC:MED&resulttype=core&format=json

23 December 2019

volume

282

2 references

31 January 2017

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17166836%20AND%20SRC:MED&resulttype=core&format=json

23 December 2019

2 references

31 January 2017

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17166836%20AND%20SRC:MED&resulttype=core&format=json

23 December 2019

page(s)

8060-8068

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17166836%20AND%20SRC:MED&resulttype=core&format=json

Prader-Willi syndrome: current understanding of cause and diagnosis

23 December 2019

cites work

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M610314200

Evaluation of potential models for imprinted and nonimprinted components of human chromosome 15q11-q13 syndromes by fine-structure homology mapping in the mouse

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M610314200

Genome organization, function, and imprinting in Prader-Willi and Angelman syndromes

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M610314200

Behavioral differences among subjects with Prader-Willi syndrome and type I or type II deletion and maternal disomy

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M610314200

Identification of Four Highly Conserved Genes between Breakpoint Hotspots BP1 and BP2 of the Prader-Willi/Angelman Syndromes Deletion Region That Have Undergone Evolutionary Transposition Mediated by Flanking Duplicons

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M610314200

The hereditary spastic paraplegias: nine genes and counting

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M610314200

Autosomal dominant familial spastic paraplegia: tight linkage to chromosome 15q

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M610314200

Distinct novel mutations affecting the same base in the NIPA1 gene cause autosomal dominant hereditary spastic paraplegia in two Chinese families

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M610314200

Clinical and genetic study of a Brazilian family with spastic paraplegia (SPG6 locus).

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M610314200

Renal magnesium handling: new insights in understanding old problems

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M610314200

Intracellular Mg2+ and magnesium depletion in isolated renal thick ascending limb cells

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M610314200

Identification and characterization of a novel mammalian Mg2+ transporter with channel-like properties

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M610314200

Neuroligins mediate excitatory and inhibitory synapse formation: involvement of PSD-95 and neurexin-1beta in neuroligin-induced synaptic specificity.

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M610314200

NovelSPG6 mutation p.A100T in a Japanese family with autosomal dominant form of hereditary spastic paraplegia

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M610314200

Spinal cord magnetic resonance imaging in autosomal dominant hereditary spastic paraplegia

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M610314200

The CLUSTAL_X windows interface: flexible strategies for multiple sequence alignment aided by quality analysis tools

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M610314200

A simple method for displaying the hydropathic character of a protein

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M610314200

21 January 2018

Identifiers

DOI

10.1074/JBC.M610314200

2 references

Consolidated OpenCitations Corpus – April 2017

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17166836%20AND%20SRC:MED&resulttype=core&format=json

23 December 2019

1 reference

Consolidated OpenCitations Corpus – April 2017

2 references

Consolidated OpenCitations Corpus – April 2017

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17166836%20AND%20SRC:MED&resulttype=core&format=json