Literature DB >> 26724390

Axon Transport and Neuropathy: Relevant Perspectives on the Etiopathogenesis of Familial Dysautonomia.

Warren G Tourtellotte1.   

Abstract

Peripheral neuropathies are highly prevalent and are most often associated with chronic disease, side effects from chemotherapy, or toxic-metabolic abnormalities. Neuropathies are less commonly caused by genetic mutations, but studies of the normal function of mutated proteins have identified particular vulnerabilities that often implicate mitochondrial dynamics and axon transport mechanisms. Hereditary sensory and autonomic neuropathies are a group of phenotypically related diseases caused by monogenic mutations that primarily affect sympathetic and sensory neurons. Here, I review evidence to indicate that many genetic neuropathies are caused by abnormalities in axon transport. Moreover, in hereditary sensory and autonomic neuropathies. There may be specific convergence on gene mutations that disrupt nerve growth factor signaling, upon which sympathetic and sensory neurons critically depend.
Copyright © 2016 American Society for Investigative Pathology. Published by Elsevier Inc. All rights reserved.

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Year:  2015        PMID: 26724390      PMCID: PMC4816694          DOI: 10.1016/j.ajpath.2015.10.022

Source DB:  PubMed          Journal:  Am J Pathol        ISSN: 0002-9440            Impact factor:   4.307


  115 in total

1.  Altered axonal mitochondrial transport in the pathogenesis of Charcot-Marie-Tooth disease from mitofusin 2 mutations.

Authors:  Robert H Baloh; Robert E Schmidt; Alan Pestronk; Jeffrey Milbrandt
Journal:  J Neurosci       Date:  2007-01-10       Impact factor: 6.167

2.  Early-onset Charcot-Marie-Tooth patients with mitofusin 2 mutations and brain involvement.

Authors:  K W Chung; B C Suh; S Y Cho; S K Choi; S H Kang; J H Yoo; J Y Hwang; B O Choi
Journal:  J Neurol Neurosurg Psychiatry       Date:  2010-06-28       Impact factor: 10.154

Review 3.  Charcot-Marie-Tooth disease and other inherited neuropathies.

Authors:  Mario A Saporta
Journal:  Continuum (Minneap Minn)       Date:  2014-10

4.  Hereditary sensory autonomic neuropathy caused by a mutation in dystonin.

Authors:  Simon Edvardson; Yuval Cinnamon; Chaim Jalas; Avraham Shaag; Channa Maayan; Felicia B Axelrod; Orly Elpeleg
Journal:  Ann Neurol       Date:  2012-04       Impact factor: 10.422

5.  Tissue-specific reduction in splicing efficiency of IKBKAP due to the major mutation associated with familial dysautonomia.

Authors:  Math P Cuajungco; Maire Leyne; James Mull; Sandra P Gill; Weining Lu; David Zagzag; Felicia B Axelrod; Channa Maayan; James F Gusella; Susan A Slaugenhaupt
Journal:  Am J Hum Genet       Date:  2003-02-06       Impact factor: 11.025

6.  Mitochondrial complex I deficiency in GDAP1-related autosomal dominant Charcot-Marie-Tooth disease (CMT2K).

Authors:  Julien Cassereau; Arnaud Chevrollier; Naïg Gueguen; Marie-Claire Malinge; Franck Letournel; Guillaume Nicolas; Laurence Richard; Marc Ferre; Christophe Verny; Frédéric Dubas; Vincent Procaccio; Patrizia Amati-Bonneau; Dominique Bonneau; Pascal Reynier
Journal:  Neurogenetics       Date:  2008-12-17       Impact factor: 2.660

7.  Severe sensory and sympathetic neuropathies in mice carrying a disrupted Trk/NGF receptor gene.

Authors:  R J Smeyne; R Klein; A Schnapp; L K Long; S Bryant; A Lewin; S A Lira; M Barbacid
Journal:  Nature       Date:  1994-03-17       Impact factor: 49.962

8.  Loss of mouse Ikbkap, a subunit of elongator, leads to transcriptional deficits and embryonic lethality that can be rescued by human IKBKAP.

Authors:  Yei-Tsung Chen; Matthew M Hims; Ranjit S Shetty; James Mull; Lijuan Liu; Maire Leyne; Susan A Slaugenhaupt
Journal:  Mol Cell Biol       Date:  2008-11-17       Impact factor: 4.272

9.  A cytoplasmic dynein tail mutation impairs motor processivity.

Authors:  Kassandra M Ori-McKenney; Jing Xu; Steven P Gross; Richard B Vallee
Journal:  Nat Cell Biol       Date:  2010-11-21       Impact factor: 28.824

10.  Mutations in BICD2 cause dominant congenital spinal muscular atrophy and hereditary spastic paraplegia.

Authors:  Emily C Oates; Alexander M Rossor; Majid Hafezparast; Michael Gonzalez; Fiorella Speziani; Daniel G MacArthur; Monkol Lek; Ellen Cottenie; Mariacristina Scoto; A Reghan Foley; Matthew Hurles; Henry Houlden; Linda Greensmith; Michaela Auer-Grumbach; Thomas R Pieber; Tim M Strom; Rebecca Schule; David N Herrmann; Janet E Sowden; Gyula Acsadi; Manoj P Menezes; Nigel F Clarke; Stephan Züchner; Francesco Muntoni; Kathryn N North; Mary M Reilly
Journal:  Am J Hum Genet       Date:  2013-05-09       Impact factor: 11.025

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  13 in total

Review 1.  Animal and cellular models of familial dysautonomia.

Authors:  Frances Lefcort; Marc Mergy; Sarah B Ohlen; Yumi Ueki; Lynn George
Journal:  Clin Auton Res       Date:  2017-06-30       Impact factor: 4.435

2.  ELP1 Splicing Correction Reverses Proprioceptive Sensory Loss in Familial Dysautonomia.

Authors:  Elisabetta Morini; Dadi Gao; Connor M Montgomery; Monica Salani; Chiara Mazzasette; Tobias A Krussig; Brooke Swain; Paula Dietrich; Jana Narasimhan; Vijayalakshmi Gabbeta; Amal Dakka; Jean Hedrick; Xin Zhao; Marla Weetall; Nikolai A Naryshkin; Gregory G Wojtkiewicz; Chien-Ping Ko; Michael E Talkowski; Ioannis Dragatsis; Susan A Slaugenhaupt
Journal:  Am J Hum Genet       Date:  2019-03-21       Impact factor: 11.025

Review 3.  The sympathetic nervous system in development and disease.

Authors:  Emily Scott-Solomon; Erica Boehm; Rejji Kuruvilla
Journal:  Nat Rev Neurosci       Date:  2021-10-01       Impact factor: 34.870

4.  Retrograde nerve growth factor signaling abnormalities in familial dysautonomia.

Authors:  Lin Li; Katherine Gruner; Warren G Tourtellotte
Journal:  J Clin Invest       Date:  2020-05-01       Impact factor: 14.808

5.  (H)Elping nerve growth factor: Elp1 inhibits TrkA's phosphatase to maintain retrograde signaling.

Authors:  David R Kaplan; William C Mobley
Journal:  J Clin Invest       Date:  2020-05-01       Impact factor: 14.808

6.  Development of the Autonomic Nervous System: Clinical Implications.

Authors:  Frances Lefcort
Journal:  Semin Neurol       Date:  2020-09-14       Impact factor: 3.420

7.  Expanding the Genotypic Spectrum of Congenital Sensory and Autonomic Neuropathies Using Whole-Exome Sequencing.

Authors:  Jose-Alberto Palma; Rachita Yadav; Dadi Gao; Lucy Norcliffe-Kaufmann; Susan Slaugenhaupt; Horacio Kaufmann
Journal:  Neurol Genet       Date:  2021-03-03

8.  MicroRNA screening identifies a link between NOVA1 expression and a low level of IKAP in familial dysautonomia.

Authors:  Mylène Hervé; El Chérif Ibrahim
Journal:  Dis Model Mech       Date:  2016-06-29       Impact factor: 5.758

9.  The familial dysautonomia disease gene IKBKAP is required in the developing and adult mouse central nervous system.

Authors:  Marta Chaverra; Lynn George; Marc Mergy; Hannah Waller; Katharine Kujawa; Connor Murnion; Ezekiel Sharples; Julian Thorne; Nathaniel Podgajny; Andrea Grindeland; Yumi Ueki; Steven Eiger; Cassie Cusick; A Michael Babcock; George A Carlson; Frances Lefcort
Journal:  Dis Model Mech       Date:  2017-02-06       Impact factor: 5.758

10.  Retina-specific loss of Ikbkap/Elp1 causes mitochondrial dysfunction that leads to selective retinal ganglion cell degeneration in a mouse model of familial dysautonomia.

Authors:  Yumi Ueki; Veronika Shchepetkina; Frances Lefcort
Journal:  Dis Model Mech       Date:  2018-07-30       Impact factor: 5.758

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