(Q24316138)

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Glycosylphosphatidylinositol (GPI) anchor deficiency caused by mutations in PIGW is associated with West syndrome and hyperphosphatasia with mental retardation syndrome

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Glycosylphosphatidylinositol (GPI) anchor deficiency caused by mutations in PIGW is associated with West syndrome and hyperphosphatasia with mental retardation syndrome (English)

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Phosphatidylinositol glycan anchor biosynthesis class W

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GOA release 2020-03-11

protein localization to plasma membrane

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GOA release 2020-03-11

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based on heuristic

inferred from title

author name string

Tomohiro Chiyonobu

1

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Norimitsu Inoue

2

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Masafumi Morimoto

3

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Taroh Kinoshita

4

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Yoshiko Murakami

5

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language of work or name

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publication date

March 2014

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Journal of Medical Genetics

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51

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3

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203-7

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The phenotype of a germline mutation in PIGA: the gene somatically mutated in paroxysmal nocturnal hemoglobinuria

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2013-102156

7 January 2021

based on heuristic

inferred from DOI database lookup

Mutations in the glycosylphosphatidylinositol gene PIGL cause CHIME syndrome

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2013-102156

7 January 2021

based on heuristic

inferred from DOI database lookup

Mutations in PIGO, a member of the GPI-anchor-synthesis pathway, cause hyperphosphatasia with mental retardation

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2013-102156

7 January 2021

based on heuristic

inferred from DOI database lookup

PGAP2 mutations, affecting the GPI-anchor-synthesis pathway, cause hyperphosphatasia with mental retardation syndrome

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2013-102156

7 January 2021

based on heuristic

inferred from DOI database lookup

Neuroepidemiology of West syndrome and early infantile epileptic encephalopathy in Miyagi Prefecture, Japan

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2013-102156

7 January 2021

based on heuristic

inferred from DOI database lookup

Hyperphosphatasia with neurologic deficit: a pyridoxine-responsive seizure disorder?

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2013-102156

7 January 2021

based on heuristic

inferred from DOI database lookup

Mice lacking tissue non-specific alkaline phosphatase die from seizures due to defective metabolism of vitamin B-6.

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2013-102156

7 January 2021

based on heuristic

inferred from DOI database lookup

Identity-by-descent filtering of exome sequence data identifies PIGV mutations in hyperphosphatasia mental retardation syndrome

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2013-102156

7 January 2021

based on heuristic

inferred from DOI database lookup

Hypomorphic promoter mutation in PIGM causes inherited glycosylphosphatidylinositol deficiency

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2013-102156

7 January 2021

based on heuristic

inferred from DOI database lookup

Mechanism for release of alkaline phosphatase caused by glycosylphosphatidylinositol deficiency in patients with hyperphosphatasia mental retardation syndrome

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2013-102156

7 January 2021

based on heuristic

inferred from DOI database lookup

Ethanolamine phosphate linked to the first mannose residue of glycosylphosphatidylinositol (GPI) lipids is a major feature of the GPI structure that is recognized by human GPI transamidase

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2013-102156

7 January 2021

based on heuristic

inferred from DOI database lookup

PIG-W Is Critical for Inositol Acylation but Not for Flipping of Glycosylphosphatidylinositol-Anchor

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2013-102156

7 January 2021

based on heuristic

inferred from DOI database lookup

PGAP2 is essential for correct processing and stable expression of GPI-anchored proteins

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2013-102156

7 January 2021

based on heuristic

inferred from DOI database lookup

PIG-M transfers the first mannose to glycosylphosphatidylinositol on the lumenal side of the ER.

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2013-102156

7 January 2021

based on heuristic

inferred from DOI database lookup

PIG-S and PIG-T, essential for GPI anchor attachment to proteins, form a complex with GAA1 and GPI8

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2013-102156

7 January 2021

based on heuristic

inferred from DOI database lookup

Biosynthesis, remodelling and functions of mammalian GPI-anchored proteins: recent progress

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2013-102156

7 January 2021

based on heuristic

inferred from DOI database lookup

A novel intellectual disability syndrome caused by GPI anchor deficiency due to homozygous mutations in PIGT.

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2013-102156

7 January 2021

based on heuristic

inferred from DOI database lookup

Multiple congenital anomalies-hypotonia-seizures syndrome is caused by a mutation in PIGN.

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2013-102156

7 January 2021

based on heuristic

inferred from DOI database lookup

Vitamin B6-responsive epilepsy due to inherited GPI deficiency

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2013-102156

7 January 2021

based on heuristic

inferred from DOI database lookup

Identifiers

10.1136/JMEDGENET-2013-102156

1 reference

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

OpenCitations bibliographic resource ID

1 reference

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

PubMed publication ID

1 reference

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

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