Novel mutations in dystonin provide clues to the pathomechanisms of HSAN-VI. (Q50439927)

13 June 2018

title

Novel mutations in dystonin provide clues to the pathomechanisms of HSAN-VI. (English)

1 reference

13 June 2018

author

Claudia Nesti

8

1 reference

PubMed publication ID

28468842

14 March 2018

http://europepmc.org/abstract/MED/28468842

Stefano Tozza

Stefano Tozza

7

0 references

Vincenzo Provitera

Vincenzo Provitera

10

0 references

Maria Nolano

Maria Nolano

3

0 references

Michael Shy

Michael E Shy

12

0 references

Filippo Maria Santorelli

11

Filippo M Santorelli

1 reference

13 June 2018

14

Stephan Zuchner

1 reference

13 June 2018

author name string

Fiore Manganelli

1

1 reference

13 June 2018

Silvia Parisi

2

1 reference

13 June 2018

Feifei Tao

4

1 reference

13 June 2018

Simona Paladino

5

1 reference

13 June 2018

Chiara Pisciotta

6

1 reference

13 June 2018

Adriana P Rebelo

9

1 reference

13 June 2018

Tommaso Russo

13

1 reference

13 June 2018

Lucio Santoro

15

1 reference

13 June 2018

language of work or name

English

0 references

publication date

3 May 2017

1 reference

13 June 2018

published in

Neurology

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13 June 2018

volume

88

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13 June 2018

issue

22

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13 June 2018

page(s)

2132-2140

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13 June 2018

Consideration of Cosegregation in the Pathogenicity Classification of Genomic Variants

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Cryptic Amyloidogenic Elements in the 3' UTRs of Neurofilament Genes Trigger Axonal Neuropathy

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One gene but different proteins and diseases: the complexity of dystonin and bullous pemphigoid antigen 1.

14 June 2018

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Transgenic expression of neuronal dystonin isoform 2 partially rescues the disease phenotype of the dystonia musculorum mouse model of hereditary sensory autonomic neuropathy VI.

14 June 2018

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14 June 2018

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A novel role for the cytoskeletal linker protein dystonin in the maintenance of microtubule stability and the regulation of ER-Golgi transport

14 June 2018

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Motor unit abnormalities in Dystonia musculorum mice

14 June 2018

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Neuronal degeneration in autonomic nervous system of Dystonia musculorum mice.

14 June 2018

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14 June 2018

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Plakins in development and disease

14 June 2018

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Structural analysis of the plakin domain of bullous pemphigoid antigen1 (BPAG1) suggests that plakins are members of the spectrin superfamily

14 June 2018

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The BPAG1 locus: Alternative splicing produces multiple isoforms with distinct cytoskeletal linker domains, including predominant isoforms in neurons and muscles

14 June 2018

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Microtubule actin cross-linking factor (MACF): a hybrid of dystonin and dystrophin that can interact with the actin and microtubule cytoskeletons

14 June 2018

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Developmental expression of BPAG1-n: insights into the spastic ataxia and gross neurologic degeneration in dystonia musculorum mice

14 June 2018

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Dystonin expression in the developing nervous system predominates in the neurons that degenerate in dystonia musculorum mutant mice.

14 June 2018

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Gene targeting of BPAG1: abnormalities in mechanical strength and cell migration in stratified epithelia and neurologic degeneration

14 June 2018

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The mouse dystonia musculorum gene is a neural isoform of bullous pemphigoid antigen 1.

14 June 2018

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Bullous pemphigoid antigen (BPAG1): cDNA cloning and mapping of the gene to the short arm of human chromosome 6

14 June 2018

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Dystonia musculorum--an inherited disease of the nervous system in the mouse

14 June 2018

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Glial cell line-derived neurotrophic factor-responsive and neurotrophin-3-responsive neurons require the cytoskeletal linker protein dystonin for postnatal survival

14 June 2018

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Disruption of actin-binding domain-containing Dystonin protein causes dystonia musculorum in mice

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Hereditary sensory autonomic neuropathy caused by a mutation in dystonin.

14 August 2018

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CLINICAL AND PATHOLOGICAL STUDIES OF AN HEREDITARY NEUROPATHY IN MICE (DYSTONIA MUSCULORUM)

14 August 2018

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Dystonin/Bpag1--a link to what?

14 August 2018

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Fine structural study of the spinal cord and spinal ganglia in mice afflicted with a hereditary sensory neuropathy, dystonia musculorum

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Identifiers

DOI

1 reference

13 June 2018

PMC publication ID

5447400

1 reference

13 June 2018

PubMed publication ID

28468842

1 reference

13 June 2018