Literature DB >> 25119890

The nuclear envelope: an intriguing focal point for neurogenetic disease.

Howard J Worman1, William T Dauer.   

Abstract

Mutations in genes encoding nuclear envelope proteins cause a wide range of inherited diseases, many of which are neurological. We review the genetic causes and what little is known about pathogenesis of these nuclear envelopathies that primarily affect striated muscle, peripheral nerve and the central nervous system. We conclude by providing examples of experimental therapeutic approaches to these rare but important neuromuscular diseases.

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Year:  2014        PMID: 25119890      PMCID: PMC4391386          DOI: 10.1007/s13311-014-0296-8

Source DB:  PubMed          Journal:  Neurotherapeutics        ISSN: 1878-7479            Impact factor:   7.620


  118 in total

Review 1.  Lamin-binding Proteins.

Authors:  Katherine L Wilson; Roland Foisner
Journal:  Cold Spring Harb Perspect Biol       Date:  2010-02-17       Impact factor: 10.005

Review 2.  Laminopathies and the long strange trip from basic cell biology to therapy.

Authors:  Howard J Worman; Loren G Fong; Antoine Muchir; Stephen G Young
Journal:  J Clin Invest       Date:  2009-07-01       Impact factor: 14.808

Review 3.  Nuclear lamins and neurobiology.

Authors:  Stephen G Young; Hea-Jin Jung; John M Lee; Loren G Fong
Journal:  Mol Cell Biol       Date:  2014-05-19       Impact factor: 4.272

Review 4.  X-linked muscular dystrophy with early contractures and cardiomyopathy (Emery-Dreifuss type).

Authors:  A E Emery
Journal:  Clin Genet       Date:  1987-11       Impact factor: 4.438

5.  SYNE1 mutations in autosomal recessive cerebellar ataxia.

Authors:  Anne Noreau; Cynthia V Bourassa; Anna Szuto; Annie Levert; Sylvia Dobrzeniecka; Julie Gauthier; Sylvie Forlani; Alexandra Durr; Mathieu Anheim; Giovanni Stevanin; Alexis Brice; Jean-Pierre Bouchard; Patrick A Dion; Nicolas Dupré; Guy A Rouleau
Journal:  JAMA Neurol       Date:  2013-10       Impact factor: 18.302

6.  Unusual type of benign x-linked muscular dystrophy.

Authors:  A E Emery; F E Dreifuss
Journal:  J Neurol Neurosurg Psychiatry       Date:  1966-08       Impact factor: 10.154

7.  Temsirolimus activates autophagy and ameliorates cardiomyopathy caused by lamin A/C gene mutation.

Authors:  Jason C Choi; Antoine Muchir; Wei Wu; Shinichi Iwata; Shunichi Homma; John P Morrow; Howard J Worman
Journal:  Sci Transl Med       Date:  2012-07-25       Impact factor: 17.956

8.  Decreased mechanical stiffness in LMNA-/- cells is caused by defective nucleo-cytoskeletal integrity: implications for the development of laminopathies.

Authors:  Jos L V Broers; Emiel A G Peeters; Helma J H Kuijpers; Jorike Endert; Carlijn V C Bouten; Cees W J Oomens; Frank P T Baaijens; Frans C S Ramaekers
Journal:  Hum Mol Genet       Date:  2004-09-14       Impact factor: 6.150

9.  Infection-triggered familial or recurrent cases of acute necrotizing encephalopathy caused by mutations in a component of the nuclear pore, RANBP2.

Authors:  Derek E Neilson; Mark D Adams; Caitlin M D Orr; Deborah K Schelling; Robert M Eiben; Douglas S Kerr; Jane Anderson; Alexander G Bassuk; Ann M Bye; Anne-Marie Childs; Antonia Clarke; Yanick J Crow; Maja Di Rocco; Christian Dohna-Schwake; Gregor Dueckers; Alfonso E Fasano; Artemis D Gika; Dimitris Gionnis; Mark P Gorman; Padraic J Grattan-Smith; Annette Hackenberg; Alice Kuster; Markus G Lentschig; Eduardo Lopez-Laso; Elysa J Marco; Sotiria Mastroyianni; Julie Perrier; Thomas Schmitt-Mechelke; Serenella Servidei; Angeliki Skardoutsou; Peter Uldall; Marjo S van der Knaap; Karrie C Goglin; David L Tefft; Cristin Aubin; Philip de Jager; David Hafler; Matthew L Warman
Journal:  Am J Hum Genet       Date:  2009-01       Impact factor: 11.025

10.  Aberrant cellular behavior of mutant torsinA implicates nuclear envelope dysfunction in DYT1 dystonia.

Authors:  Pedro Gonzalez-Alegre; Henry L Paulson
Journal:  J Neurosci       Date:  2004-03-17       Impact factor: 6.167

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  13 in total

1.  Novel missense alleles of SIGMAR1 as tools to understand emerin-dependent gene silencing in response to cocaine.

Authors:  Adith S Arun; Chelsy R Eddings; Katherine L Wilson
Journal:  Exp Biol Med (Maywood)       Date:  2019-07-19

2.  LINCing defective nuclear-cytoskeletal coupling and DYT1 dystonia.

Authors:  Cosmo A Saunders; G W Gant Luxton
Journal:  Cell Mol Bioeng       Date:  2016-02-03       Impact factor: 2.321

3.  Neurogenetic disease: genes, mechanisms, and future promise.

Authors:  William T Dauer
Journal:  Neurotherapeutics       Date:  2014-10       Impact factor: 7.620

4.  Quantitative Brightness Analysis of Protein Oligomerization in the Nuclear Envelope.

Authors:  Jared Hennen; Kwang-Ho Hur; Cosmo A Saunders; G W Gant Luxton; Joachim D Mueller
Journal:  Biophys J       Date:  2017-07-11       Impact factor: 4.033

5.  Non-farnesylated B-type lamin can tether chromatin inside the nucleus and its chromatin interaction requires the Ig-fold region.

Authors:  Ryo Uchino; Shin Sugiyama; Motoi Katagiri; Yoshiro Chuman; Kazuhiro Furukawa
Journal:  Chromosoma       Date:  2016-02-19       Impact factor: 4.316

Review 6.  Nuclear membrane diversity: underlying tissue-specific pathologies in disease?

Authors:  Howard J Worman; Eric C Schirmer
Journal:  Curr Opin Cell Biol       Date:  2015-06-24       Impact factor: 8.382

7.  Determination of Membrane Protein Distribution on the Nuclear Envelope by Single-Point Single-Molecule FRAP.

Authors:  Krishna C Mudumbi; Weidong Yang
Journal:  Curr Protoc Cell Biol       Date:  2017-09-01

8.  Pathogenic Variants in NUP214 Cause "Plugged" Nuclear Pore Channels and Acute Febrile Encephalopathy.

Authors:  Boris Fichtman; Tamar Harel; Nitzan Biran; Fadia Zagairy; Carolyn D Applegate; Yuval Salzberg; Tal Gilboa; Somaya Salah; Avraham Shaag; Natalia Simanovsky; Houriya Ayoubieh; Nara Sobreira; Giuseppe Punzi; Ciro Leonardo Pierri; Ada Hamosh; Orly Elpeleg; Amnon Harel; Simon Edvardson
Journal:  Am J Hum Genet       Date:  2019-06-06       Impact factor: 11.043

9.  Single-point single-molecule FRAP distinguishes inner and outer nuclear membrane protein distribution.

Authors:  Krishna C Mudumbi; Eric C Schirmer; Weidong Yang
Journal:  Nat Commun       Date:  2016-08-25       Impact factor: 14.919

10.  Combined loss of LAP1B and LAP1C results in an early onset multisystemic nuclear envelopathy.

Authors:  Boris Fichtman; Fadia Zagairy; Nitzan Biran; Yiftah Barsheshet; Elena Chervinsky; Ziva Ben Neriah; Avraham Shaag; Michael Assa; Orly Elpeleg; Amnon Harel; Ronen Spiegel
Journal:  Nat Commun       Date:  2019-02-05       Impact factor: 14.919

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