标题
A review of gigaxonin mutations in giant axonal neuropathy (GAN) and cancer
作者
关键词
Cystic Fibrosis Transmembrane Conductance Regulator, iPSC, Silent Mutation, KM12 Cell, Giant Axonal Neuropathy
出版物
HUMAN GENETICS
Volume 135, Issue 7, Pages 675-684
出版商
Springer Nature
发表日期
2016-03-29
DOI
10.1007/s00439-016-1659-5
参考文献
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。- Functions and characteristics of PINK1 and Parkin in cancer
- (2015) Satoru Matsuda Frontiers in Bioscience-Landmark
- Mitofusin-2 over-expresses and leads to dysregulation of cell cycle and cell invasion in lung adenocarcinoma
- (2015) Yuqing Lou et al. MEDICAL ONCOLOGY
- Colorectal Cancer Cell Lines Are Representative Models of the Main Molecular Subtypes of Primary Cancer
- (2014) D. Mouradov et al. CANCER RESEARCH
- Intermediate filament protein accumulation in motor neurons derived from giant axonal neuropathy iPSCs rescued by restoration of gigaxonin
- (2014) Bethany L. Johnson-Kerner et al. HUMAN MOLECULAR GENETICS
- p16 Protein and Gigaxonin Are Associated with the Ubiquitination of NFκB in Cisplatin-induced Senescence of Cancer Cells
- (2014) Mysore S. Veena et al. JOURNAL OF BIOLOGICAL CHEMISTRY
- Giant axonal neuropathy: An updated perspective on its pathology and pathogenesis
- (2014) Bethany L. Johnson-Kerner et al. MUSCLE & NERVE
- A comprehensive transcriptional portrait of human cancer cell lines
- (2014) Christiaan Klijn et al. NATURE BIOTECHNOLOGY
- A recurrent neomorphic mutation in MYOD1 defines a clinically aggressive subset of embryonal rhabdomyosarcoma associated with PI3K-AKT pathway mutations
- (2014) Shinji Kohsaka et al. NATURE GENETICS
- RNF43 is frequently mutated in colorectal and endometrial cancers
- (2014) Marios Giannakis et al. NATURE GENETICS
- Genetic variants may play an important role in mRNA–miRNA interaction
- (2014) Anneke N. Werk et al. Pharmacogenetics and Genomics
- The instability of the BTB-KELCH protein Gigaxonin causes Giant Axonal Neuropathy and constitutes a new penetrant and specific diagnostic test
- (2014) Alexia Boizot et al. Acta Neuropathologica Communications
- The Exomes of the NCI-60 Panel: A Genomic Resource for Cancer Biology and Systems Pharmacology
- (2013) O. D. Abaan et al. CANCER RESEARCH
- Restoration of Cytoskeleton Homeostasis After Gigaxonin Gene Transfer for Giant Axonal Neuropathy
- (2013) Silke Mussche et al. HUMAN GENE THERAPY
- A common polymorphism in the LDL receptor gene has multiple effects on LDL receptor function
- (2013) Feng Gao et al. HUMAN MOLECULAR GENETICS
- Giant axonal neuropathy–associated gigaxonin mutations impair intermediate filament protein degradation
- (2013) Saleemulla Mahammad et al. JOURNAL OF CLINICAL INVESTIGATION
- Vimentin in cancer and its potential as a molecular target for cancer therapy
- (2011) Arun Satelli et al. CELLULAR AND MOLECULAR LIFE SCIENCES
- Sensory-motor deficits and neurofilament disorganization in gigaxonin-null mice
- (2011) Thibault Ganay et al. Molecular Neurodegeneration
- A Synonymous Mutation in the CFTR Gene Causes Aberrant Splicing in an Italian Patient Affected by a Mild Form of Cystic Fibrosis
- (2010) Valeria Faa′ et al. JOURNAL OF MOLECULAR DIAGNOSTICS
- Gigaxonin controls vimentin organization through a tubulin chaperone-independent pathway
- (2009) D. W. Cleveland et al. HUMAN MOLECULAR GENETICS
- Modest loss of peripheral axons, muscle atrophy and formation of brain inclusions in mice with targeted deletion of gigaxonin exon 1
- (2008) Florence Dequen et al. JOURNAL OF NEUROCHEMISTRY
Find the ideal target journal for your manuscript
Explore over 38,000 international journals covering a vast array of academic fields.
SearchCreate your own webinar
Interested in hosting your own webinar? Check the schedule and propose your idea to the Peeref Content Team.
Create Now