Search details
1.
Neurofilament light polypeptide gene N98S mutation in mice leads to neurofilament network abnormalities and a Charcot-Marie-Tooth Type 2E phenotype.
Hum Mol Genet
; 24(8): 2163-74, 2015 Apr 15.
Article
in English
| MEDLINE | ID: mdl-25552649
2.
Mutant small heat-shock protein 27 causes axonal Charcot-Marie-Tooth disease and distal hereditary motor neuropathy.
Nat Genet
; 36(6): 602-6, 2004 Jun.
Article
in English
| MEDLINE | ID: mdl-15122254
3.
Nervous-tissue-specific elimination of microtubule-actin crosslinking factor 1a results in multiple developmental defects in the mouse brain.
Mol Cell Neurosci
; 44(1): 1-14, 2010 May.
Article
in English
| MEDLINE | ID: mdl-20170731
4.
CHIP-ping away at tau.
J Clin Invest
; 117(3): 590-2, 2007 Mar.
Article
in English
| MEDLINE | ID: mdl-17332887
5.
RE1 silencing transcription factor is involved in regulating neuron-specific expression of alpha-internexin and neurofilament genes.
J Neurochem
; 109(6): 1610-23, 2009 Jun.
Article
in English
| MEDLINE | ID: mdl-19457133
6.
Plakins: a family of versatile cytolinker proteins.
Trends Cell Biol
; 12(1): 37-45, 2002 Jan.
Article
in English
| MEDLINE | ID: mdl-11854008
7.
Multiple disease-linked myotubularin mutations cause NFL assembly defects in cultured cells and disrupt myotubularin dimerization.
J Neurochem
; 104(6): 1536-52, 2008 Mar.
Article
in English
| MEDLINE | ID: mdl-17973976
8.
Structural analysis of the plakin domain of bullous pemphigoid antigen1 (BPAG1) suggests that plakins are members of the spectrin superfamily.
J Mol Biol
; 366(1): 244-57, 2007 Feb 09.
Article
in English
| MEDLINE | ID: mdl-17161423
9.
Alpha-internexin is structurally and functionally associated with the neurofilament triplet proteins in the mature CNS.
J Neurosci
; 26(39): 10006-19, 2006 Sep 27.
Article
in English
| MEDLINE | ID: mdl-17005864
10.
Alterations in lipid metabolism gene expression and abnormal lipid accumulation in fibroblast explants from giant axonal neuropathy patients.
BMC Genet
; 8: 6, 2007 Mar 01.
Article
in English
| MEDLINE | ID: mdl-17331252
11.
Molecular characterization of the genetic lesion in Dystonia musculorum (dt-Alb) mice.
Brain Res
; 1140: 179-87, 2007 Apr 06.
Article
in English
| MEDLINE | ID: mdl-16725123
12.
Abnormal neurofilament inclusions and segregations in dorsal root ganglia of a Charcot-Marie-Tooth type 2E mouse model.
PLoS One
; 12(6): e0180038, 2017.
Article
in English
| MEDLINE | ID: mdl-28654681
13.
Cytoskeletal Integrators: The Spectrin Superfamily.
Cold Spring Harb Perspect Biol
; 8(10)2016 Oct 03.
Article
in English
| MEDLINE | ID: mdl-27698030
14.
Microtubule-Actin Cross-Linking Factor 1: Domains, Interaction Partners, and Tissue-Specific Functions.
Methods Enzymol
; 569: 331-53, 2016.
Article
in English
| MEDLINE | ID: mdl-26778566
15.
α-Internexin and Peripherin: Expression, Assembly, Functions, and Roles in Disease.
Methods Enzymol
; 568: 477-507, 2016.
Article
in English
| MEDLINE | ID: mdl-26795481
16.
The G336S variant in the human neurofilament-M gene does not affect its assembly or distribution: importance of the functional analysis of neurofilament variants.
J Neuropathol Exp Neurol
; 63(7): 759-74, 2004 Jul.
Article
in English
| MEDLINE | ID: mdl-15290901
17.
A pathogenic peripherin gene mutation in a patient with amyotrophic lateral sclerosis.
Brain Pathol
; 14(3): 290-6, 2004 Jul.
Article
in English
| MEDLINE | ID: mdl-15446584
18.
BPAG1a and b associate with EB1 and EB3 and modulate vesicular transport, Golgi apparatus structure, and cell migration in C2.7 myoblasts.
PLoS One
; 9(9): e107535, 2014.
Article
in English
| MEDLINE | ID: mdl-25244344
19.
Intermediate filaments: not just for structure anymore.
Curr Biol
; 23(8): R322-4, 2013 Apr 22.
Article
in English
| MEDLINE | ID: mdl-23618669
20.
A molecular network for the transport of the TI-VAMP/VAMP7 vesicles from cell center to periphery.
Dev Cell
; 23(1): 166-80, 2012 Jul 17.
Article
in English
| MEDLINE | ID: mdl-22705394