A novel mouse model carrying a human cytoplasmic dynein mutation shows motor behavior deficits consistent with Charcot-Marie-Tooth type 2O disease
暂无分享,去创建一个
S. J. King | J. Pasos | Linda E. King | Thywill T. Sabblah | Rachal Love | S. Nandini | Aaron P Ledray | Jami L. Conley Calderon
[1] Ha Thanh Thi Hoang,et al. DYNC1H1 mutations associated with neurological diseases compromise processivity of dynein–dynactin–cargo adaptor complexes , 2017, Proceedings of the National Academy of Sciences.
[2] J. England,et al. Charcot‐Marie‐Tooth Disease: An Overview of Genotypes, Phenotypes, and Clinical Management Strategies , 2014, PM & R : the journal of injury, function, and rehabilitation.
[3] C. Bucci,et al. Charcot–Marie–Tooth disease and intracellular traffic , 2012, Progress in Neurobiology.
[4] M. Plamann,et al. Analyses of Dynein Heavy Chain Mutations Reveal Complex Interactions Between Dynein Motor Domains and Cellular Dynein Functions , 2012, Genetics.
[5] H. Shiraishi,et al. A DYNC1H1 mutation causes a dominant spinal muscular atrophy with lower extremity predominance , 2012, neurogenetics.
[6] S. King. Dyneins : structure, biology and disease , 2012 .
[7] C. Espinós,et al. Autosomal recessive Charcot-Marie-Tooth neuropathy. , 2012, Advances in experimental medicine and biology.
[8] M. Shy,et al. Strategy for genetic testing in Charcot-Marie-Disease , 2011, Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology.
[9] M. Weedon,et al. Exome sequencing identifies a DYNC1H1 mutation in a large pedigree with dominant axonal Charcot-Marie-Tooth disease. , 2011, American journal of human genetics.
[10] R. Segal,et al. Neuromuscular Junction Defects in Mice with Mutation of dynein heavy chain 1 , 2011, PloS one.
[11] M. Shy,et al. Charcot‐marie‐tooth disease subtypes and genetic testing strategies , 2011, Annals of neurology.
[12] Arrate Muñoz-Barrutia,et al. 3D reconstruction of histological sections: Application to mammary gland tissue , 2010, Microscopy research and technique.
[13] Benjamin Schmid,et al. A high-level 3D visualization API for Java and ImageJ , 2010, BMC Bioinformatics.
[14] P. Tonali,et al. Natural history of Charcot–Marie-Tooth 2: 2-year follow-up of muscle strength, walking ability and quality of life , 2010, Neurological Sciences.
[15] T. Yaksh,et al. Mutant dynein (Loa) triggers proprioceptive axon loss that extends survival only in the SOD1 ALS model with highest motor neuron death , 2008, Proceedings of the National Academy of Sciences.
[16] A. Redmond,et al. Factors that influence health-related quality of life in Australian adults with Charcot–Marie–Tooth disease , 2008, Neuromuscular Disorders.
[17] K. Millen,et al. Proprioceptive Sensory Neuropathy in Mice with a Mutation in the Cytoplasmic Dynein Heavy Chain 1 Gene , 2007, The Journal of Neuroscience.
[18] Steve D. M. Brown,et al. Dynein mutations impair autophagic clearance of aggregate-prone proteins , 2005, Nature Genetics.
[19] Yasushi Hiraoka,et al. Mutations in Dynein Link Motor Neuron Degeneration to Defects in Retrograde Transport , 2003, Science.
[20] R. Abresch,et al. Assessment of pain and health-related quality of life in slowly progressive neuromuscular disease , 2002, The American journal of hospice & palliative care.
[21] K Weber,et al. Identification of essential genes in cultured mammalian cells using small interfering RNAs. , 2001, Journal of cell science.
[22] J. Sanes,et al. Induction, assembly, maturation and maintenance of a postsynaptic apparatus , 2001, Nature reviews. Neuroscience.
[23] J. Duncan,et al. An adaptive coding model of neural function in prefrontal cortex , 2001, Nature Reviews Neuroscience.
[24] E. Fisher,et al. SHIRPA, a protocol for behavioral assessment: validation for longitudinal study of neurological dysfunction in mice , 2001, Neuroscience Letters.
[25] R. Abresch,et al. Health-related quality of life in peripheral neuropathy. , 2001, Physical medicine and rehabilitation clinics of North America.
[26] S. Karki,et al. Cytoplasmic dynein and dynactin in cell division and intracellular transport. , 1999, Current opinion in cell biology.
[27] N. Hirokawa,et al. Golgi Vesiculation and Lysosome Dispersion in Cells Lacking Cytoplasmic Dynein , 1998, The Journal of cell biology.
[28] K. Ray,et al. Cytoplasmic dynein (ddlc1) mutations cause morphogenetic defects and apoptotic cell death in Drosophila melanogaster , 1996, Molecular and cellular biology.
[29] T. Hays,et al. Cytoplasmic dynein function is essential in Drosophila melanogaster. , 1996, Genetics.