相关参考文献
注意：仅列出部分参考文献，下载原文获取全部文献信息。Mutations in BCAP31 Cause a Severe X-Linked Phenotype with Deafness, Dystonia, and Central Hypomyelination and Disorganize the Golgi Apparatus
Pierre Cacciagli et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2013)
Phenotype and genotype in 101 males with X-linked creatine transporter deficiency
J. M. van de Kamp et al.
JOURNAL OF MEDICAL GENETICS (2013)
Contiguous ABCD1 DXS1357E deletion syndrome: Report of an autopsy case
Mitsuaki Iwasa et al.
NEUROPATHOLOGY (2013)
Contiguous deletion of SLC6A8 and BAP31 in a patient with severe dystonia and sensorineural deafness
Hitoshi Osaka et al.
MOLECULAR GENETICS AND METABOLISM (2012)
Fis1 and Bap31 bridge the mitochondria-ER interface to establish a platform for apoptosis induction
Ryota Iwasawa et al.
EMBO JOURNAL (2011)
BAP31 interacts with Sec61 translocons and promotes retrotranslocation of CFTRΔF508 via the Derlin-1 complex
Bing Wang et al.
CELL (2008)
X-linked creatine transporter defect: A report on two unrelated boys with a severe clinical phenotype
IM Anselm et al.
JOURNAL OF INHERITED METABOLIC DISEASE (2006)
A role for Fis1 in both mitochondrial and peroxisomal fission in mammalian cells
A Koch et al.
MOLECULAR BIOLOGY OF THE CELL (2005)
X-linked adrenoleukodystrophy with partial deletion of ALD due to fusion with the neighbor gene, PLXNB3
T Matsumoto et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2005)
Plexin B3 promotes neurite outgrowth, interacts homophilically, and interacts with Rin
C Hartwig et al.
BMC NEUROSCIENCE (2005)
Uncleaved BAP31 in association with A4 protein at the endoplasmic reticulum is an inhibitor of Fas-initiated release of cytochrome c from mitochondria
B Wang et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2003)
Caspase cleavage product of BAP31 induces mitochondrial fission through endoplasmic reticulum calcium signals, enhancing cytochrome c release to the cytosol
DG Breckenridge et al.
JOURNAL OF CELL BIOLOGY (2003)
The resident endoplasmic reticulum protein, BAP31, associates with gamma-actin and myosin B heavy chain - Analysis by capillary liquid chromatography microelectrospray tandem MS
A Ducret et al.
EUROPEAN JOURNAL OF BIOCHEMISTRY (2003)
Contiguous deletion of the X-linked adrenoleukodystrophy gene (ABCD1) and DXS1357E:: A novel neonatal phenotype similar to peroxisomal biogenesis disorders
D Corzo et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2002)
分享论文
