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Cytoskeletal Integrators: The Spectrin Superfamily

Cold Spring Harbor perspectives in biology, 2016-10, Vol.8 (10)

Liem, Ronald K H

2016

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Abnormal neurofilament inclusions and segregations in dorsal root ganglia of a Charcot-Marie-Tooth type 2E mouse model

PloS one, 2017-06, Vol.12 (6), p.e0180038-e0180038

2017

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Axonal Charcot–Marie–Tooth disease patient-derived motor neurons demonstrate disease-specific phenotypes including abnormal electrophysiological properties

Experimental neurology, 2015-01, Vol.263, p.190-199

2015

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A Molecular Network for the Transport of the TI-VAMP/VAMP7 Vesicles from Cell Center to Periphery

Developmental cell, 2012-07, Vol.23 (1), p.166-180

2012

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BPAG1a and b associate with EB1 and EB3 and modulate vesicular transport, Golgi apparatus structure, and cell migration in C2.7 myoblasts

PloS one, 2014-09, Vol.9 (9), p.e107535-e107535

2014

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Intermediate Filament Proteins

1, 2016

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Neurofilament light polypeptide gene N98S mutation in mice leads to neurofilament network abnormalities and a Charcot-Marie-Tooth Type 2E phenotype

Human molecular genetics, 2015-04, Vol.24 (8), p.2163-2174

2015

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Plakins: Goliaths that link cell junctions and the cytoskeleton

Nature reviews. Molecular cell biology, 2004-07, Vol.5 (7), p.542-553

2004

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Neurofilaments Form a Highly Stable Stationary Cytoskeleton after Reaching a Critical Level in Axons

The Journal of neuroscience, 2009-09, Vol.29 (36), p.11316-11329

2009

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The role of microtubule actin cross-linking factor 1 (MACF1) in the Wnt signaling pathway

Genes & development, 2006-07, Vol.20 (14), p.1933-1945

2006

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Alpha-internexin is structurally and functionally associated with the neurofilament triplet proteins in the mature CNS

The Journal of neuroscience, 2006-09, Vol.26 (39), p.10006-10019

2006

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Plakins in development and disease

Experimental cell research, 2007-06, Vol.313 (10), p.2189-2203

2007

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Mutations in the neurofilament light gene linked to Charcot‐Marie‐Tooth disease cause defects in transport

Journal of neurochemistry, 2005-05, Vol.93 (4), p.861-874

2005

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Nervous-tissue-specific elimination of microtubule-actin crosslinking factor 1a results in multiple developmental defects in the mouse brain

Molecular and cellular neuroscience, 2010-05, Vol.44 (1), p.1-14

2010

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α-Internexin and Peripherin: Expression, Assembly, Functions, and Roles in Disease

Methods in enzymology, 2016-01, Vol.568, p.477-507

2016

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Dysfunctions of neuronal and glial intermediate filaments in disease

The Journal of clinical investigation, 2009-07, Vol.119 (7), p.1814-1824

2009

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RE1 silencing transcription factor is involved in regulating neuron‐specific expression of α‐internexin and neurofilament genes

Journal of neurochemistry, 2009-06, Vol.109 (6), p.1610-1623

2009

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Microtubule actin crosslinking factor 1b: a novel plakin that localizes to the Golgi complex

Journal of cell science, 2005-08, Vol.118 (Pt 16), p.3727-3738

2005

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Multiple disease‐linked myotubularin mutations cause NFL assembly defects in cultured cells and disrupt myotubularin dimerization

Journal of neurochemistry, 2008-03, Vol.104 (6), p.1536-1552

2008

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Microtubule-Actin Cross-Linking Factor 1: Domains, Interaction Partners, and Tissue-Specific Functions

Methods in enzymology, 2016, Vol.569, p.331-353

2016

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Neurofilaments Are Transported Rapidly But Intermittently in Axons: Implications for Slow Axonal Transport

The Journal of neuroscience, 2000-09, Vol.20 (18), p.6849-6861

2000

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Effects of Charcot-Marie-Tooth-linked mutations of the neurofilament light subunit on intermediate filament formation

Journal of cell science, 2002-12, Vol.115 (Pt 24), p.4937-4946

2002

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Phenotypic analysis of neurofilament light gene mutations linked to Charcot-Marie-Tooth disease in cell culture models

Human molecular genetics, 2004-10, Vol.13 (19), p.2207-2220

2004

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Peripherin is a subunit of peripheral nerve neurofilaments: implications for differential vulnerability of CNS and peripheral nervous system axons

The Journal of neuroscience, 2012-06, Vol.32 (25), p.8501-8508

2012

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Dissecting the sequence specific functions of alternative N-terminal isoforms of mouse bullous pemphigoid antigen 1

Experimental cell research, 2006-09, Vol.312 (15), p.2712-2725

2006

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Cytoskeletal Integrators: The Spectrin Superfamily

Abnormal neurofilament inclusions and segregations in dorsal root ganglia of a Charcot-Marie-Tooth type 2E mouse model

Axonal Charcot–Marie–Tooth disease patient-derived motor neurons demonstrate disease-specific phenotypes including abnormal electrophysiological properties

A Molecular Network for the Transport of the TI-VAMP/VAMP7 Vesicles from Cell Center to Periphery

BPAG1a and b associate with EB1 and EB3 and modulate vesicular transport, Golgi apparatus structure, and cell migration in C2.7 myoblasts

Intermediate Filament Proteins

Neurofilament light polypeptide gene N98S mutation in mice leads to neurofilament network abnormalities and a Charcot-Marie-Tooth Type 2E phenotype

Plakins: Goliaths that link cell junctions and the cytoskeleton

Neurofilaments Form a Highly Stable Stationary Cytoskeleton after Reaching a Critical Level in Axons

The role of microtubule actin cross-linking factor 1 (MACF1) in the Wnt signaling pathway

Alpha-internexin is structurally and functionally associated with the neurofilament triplet proteins in the mature CNS

Plakins in development and disease

Mutations in the neurofilament light gene linked to Charcot‐Marie‐Tooth disease cause defects in transport

Nervous-tissue-specific elimination of microtubule-actin crosslinking factor 1a results in multiple developmental defects in the mouse brain

α-Internexin and Peripherin: Expression, Assembly, Functions, and Roles in Disease

Dysfunctions of neuronal and glial intermediate filaments in disease

RE1 silencing transcription factor is involved in regulating neuron‐specific expression of α‐internexin and neurofilament genes

Microtubule actin crosslinking factor 1b: a novel plakin that localizes to the Golgi complex

Multiple disease‐linked myotubularin mutations cause NFL assembly defects in cultured cells and disrupt myotubularin dimerization

Microtubule-Actin Cross-Linking Factor 1: Domains, Interaction Partners, and Tissue-Specific Functions

Neurofilaments Are Transported Rapidly But Intermittently in Axons: Implications for Slow Axonal Transport

Effects of Charcot-Marie-Tooth-linked mutations of the neurofilament light subunit on intermediate filament formation

Phenotypic analysis of neurofilament light gene mutations linked to Charcot-Marie-Tooth disease in cell culture models

Peripherin is a subunit of peripheral nerve neurofilaments: implications for differential vulnerability of CNS and peripheral nervous system axons

Dissecting the sequence specific functions of alternative N-terminal isoforms of mouse bullous pemphigoid antigen 1

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