标题
Recurrent de novo
MAPK8IP3
variants cause neurological phenotypes
作者
关键词
-
出版物
ANNALS OF NEUROLOGY
Volume 85, Issue 6, Pages 927-933
出版商
Wiley
发表日期
2019-04-04
DOI
10.1002/ana.25481
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。- De Novo Missense Variants in TRAF7 Cause Developmental Delay, Congenital Anomalies, and Dysmorphic Features
- (2018) Mari J. Tokita et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Genomic analysis identifies masqueraders of full-term cerebral palsy
- (2018) Yusuke Takezawa et al. Annals of Clinical and Translational Neurology
- Exome analysis of Smith–Magenis-like syndrome cohort identifies de novo likely pathogenic variants
- (2017) Seth I. Berger et al. HUMAN GENETICS
- Impaired JIP3-dependent axonal lysosome transport promotes amyloid plaque pathology
- (2017) Swetha Gowrishankar et al. JOURNAL OF CELL BIOLOGY
- De novo KCNH1 mutations in four patients with syndromic developmental delay, hypotonia and seizures
- (2016) Ryoko Fukai et al. JOURNAL OF HUMAN GENETICS
- JSAP1/JIP3 and JLP regulate kinesin-1-dependent axonal transport to prevent neuronal degeneration
- (2015) T Sato et al. CELL DEATH AND DIFFERENTIATION
- JIP3 Activates Kinesin-1 Motility to Promote Axon Elongation
- (2015) Dana Watt et al. JOURNAL OF BIOLOGICAL CHEMISTRY
- The contribution of de novo coding mutations to autism spectrum disorder
- (2014) Ivan Iossifov et al. NATURE
- A framework for the interpretation of de novo mutation in human disease
- (2014) Kaitlin E Samocha et al. NATURE GENETICS
- An Organelle Gatekeeper Function forCaenorhabditis elegansUNC-16 (JIP3) at the Axon Initial Segment
- (2013) Stacey L. Edwards et al. GENETICS
- JNK-Interacting Protein 3 Mediates the Retrograde Transport of Activated c-Jun N-Terminal Kinase and Lysosomes
- (2013) Catherine M. Drerup et al. PLoS Genetics
- The Rab Interacting Lysosomal Protein (RILP) Homology Domain Functions as a Novel Effector Domain for Small GTPase Rab36
- (2012) Takahide Matsui et al. JOURNAL OF BIOLOGICAL CHEMISTRY
- Targeted expression of a chimeric channelrhodopsin in zebrafish under regulation of Gal4-UAS system
- (2012) Keiko Umeda et al. NEUROSCIENCE RESEARCH
- JIP3 Mediates TrkB Axonal Anterograde Transport and Enhances BDNF Signaling by Directly Bridging TrkB with Kinesin-1
- (2011) S.-H. Huang et al. JOURNAL OF NEUROSCIENCE
- Molecular Motors in Neurons: Transport Mechanisms and Roles in Brain Function, Development, and Disease
- (2010) Nobutaka Hirokawa et al. NEURON
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