(Q43884964)

27 November 2017

title

Contiguous ABCD1 DXS1357E deletion syndrome: report of an autopsy case (English)

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27 November 2017

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3

Masashi Mizuguchi

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27 November 2017

Mitsuaki Iwasa

1

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27 November 2017

Takanori Yamagata

2

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27 November 2017

Masayuki Itoh

4

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27 November 2017

Ayumi Matsumoto

5

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27 November 2017

Mitsugu Hironaka

6

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27 November 2017

Ayako Honda

7

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27 November 2017

Mariko Y Momoi

8

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27 November 2017

Nobuyuki Shimozawa

9

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27 November 2017

publication date

21 September 2012

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27 November 2017

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27 November 2017

volume

33

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27 November 2017

issue

3

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27 November 2017

page(s)

292-298

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Contiguous deletion of the X-linked adrenoleukodystrophy gene (ABCD1) and DXS1357E: a novel neonatal phenotype similar to peroxisomal biogenesis disorders

27 November 2017

cites work

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https://api.crossref.org/works/10.1111%2FJ.1440-1789.2012.01348.X

Bap31 is an itinerant protein that moves between the peripheral endoplasmic reticulum (ER) and a juxtanuclear compartment related to ER-associated Degradation.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1440-1789.2012.01348.X

Caspase cleavage product of BAP31 induces mitochondrial fission through endoplasmic reticulum calcium signals, enhancing cytochrome c release to the cytosol

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1440-1789.2012.01348.X

Contiguous deletion of SLC6A8 and BAP31 in a patient with severe dystonia and sensorineural deafness

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1440-1789.2012.01348.X

Gas chromatography/mass spectrometry analysis of very long chain fatty acids, docosahexaenoic acid, phytanic acid and plasmalogen for the screening of peroxisomal disorders

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1440-1789.2012.01348.X

A human gene responsible for Zellweger syndrome that affects peroxisome assembly

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1440-1789.2012.01348.X

Insertion of the 70-kDa peroxisomal membrane protein into peroxisomal membranes in vivo and in vitro

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1440-1789.2012.01348.X

D-3-hydroxyacyl-CoA dehydratase/D-3-hydroxyacyl-CoA dehydrogenase bifunctional protein deficiency: a newly identified peroxisomal disorder

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1440-1789.2012.01348.X

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1440-1789.2012.01348.X

Deficient activities and proteins of peroxisomal beta-oxidation enzymes in infants with Zellweger syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1440-1789.2012.01348.X

Clinical, biochemical and genetic aspects and neuronal migration in peroxisome biogenesis disorders

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1440-1789.2012.01348.X

Identification of a two base pair deletion in five unrelated families with adrenoleukodystrophy: a possible hot spot for mutations

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1440-1789.2012.01348.X

Bap31 enhances the endoplasmic reticulum export and quality control of human class I MHC molecules

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1440-1789.2012.01348.X

Association of BAP31 with CD11b/CD18. Potential role in intracellular trafficking of CD11b/CD18 in neutrophils

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1440-1789.2012.01348.X

Association of active caspase 8 with the mitochondrial membrane during apoptosis: potential roles in cleaving BAP31 and caspase 3 and mediating mitochondrion-endoplasmic reticulum cross talk in etoposide-induced cell death

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1440-1789.2012.01348.X

Uncleaved BAP31 in association with A4 protein at the endoplasmic reticulum is an inhibitor of Fas-initiated release of cytochrome c from mitochondria

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1440-1789.2012.01348.X

Plexin-B3 is a functional receptor for semaphorin 5A.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1440-1789.2012.01348.X

Plexin B3 promotes neurite outgrowth, interacts homophilically, and interacts with Rin.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1440-1789.2012.01348.X

X-linked adrenoleukodystrophy with partial deletion of ALD due to fusion with the neighbor gene, PLXNB3.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1440-1789.2012.01348.X

Molecular characterization and expression patterns of serine/arginine-rich specific kinase 3 (SPRK3) in porcine skeletal muscle

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1440-1789.2012.01348.X

Genomic organization of two novel genes on human Xq28: compact head to head arrangement of IDH gamma and TRAP delta is conserved in rat and mouse

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1440-1789.2012.01348.X

10.1111/J.1440-1789.2012.01348.X

21 January 2018

Identifiers

DOI

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27 November 2017

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