ContiguousABCD1 DXS1357Edeletion syndrome: Report of an autopsy case-Reference-Cited by-同舟云学术

ContiguousABCD1 DXS1357Edeletion syndrome: Report of an autopsy case

Published:2012-09-21 Issue:3 Volume:33 Page:292-298
ISSN:0919-6544
Container-title:Neuropathology
language:en
Short-container-title:Neuropathology

Author:

Iwasa Mitsuaki¹,Yamagata Takanori¹,Mizuguchi Masashi²,Itoh Masayuki³,Matsumoto Ayumi¹,Hironaka Mitsugu⁴,Honda Ayako⁵,Momoi Mariko Y.¹,Shimozawa Nobuyuki⁵

Affiliation:

1. Department of Pediatrics; Jichi Medical University; Tochigi

2. Department of Developmental Medical Sciences; Graduate School of Medicine; the University of Tokyo; Japan

3. Department of Mental Retardation and Birth Defect Research; National Institute of Neuroscience; National Center of Neurology and Psychiatry; Tokyo; Japan

4. Department of Pathology; Jichi Medical University; Tochigi

5. Division of Genomics Research; Life Science Research Center; Gifu University; Gifu; Japan

Publisher

Wiley

Subject

Neurology (clinical),General Medicine,Pathology and Forensic Medicine

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1111/j.1440-1789.2012.01348.x/fullpdf

Reference25 articles.

1. Contiguous deletion of the X-linked adrenoleukodystrophy gene (ABCD1) and DXS1357E: a novel neonatal phenotype similar to peroxisomal biogenesis disorders;Corzo;Am J Hum Genet,2002

2. Bap31 is an itinerant protein that moves between the peripheral endoplasmic reticulum (ER) and a juxtanuclear compartment related to ER-associated Degradation;Wakana;Mol Biol Cell,2008

3. Caspase cleavage product of BAP31 induces mitochondrial fission through endoplasmic reticulum calcium signals, enhancing cytochrome c release to the cytosol;Breckenridge;J Cell Biol,2003