(Q22011111)

response to unfolded protein

GOA release 2020-03-11

1 reference

GOA release 2020-03-11

1 reference

Xandra O. Breakefield

13

X O

Breakefield

X O Breakefield

1 reference

7 February 2023

8

S B

Bressman

S B Bressman

1 reference

7 February 2023

1

L J

Ozelius

L J Ozelius

1 reference

7 February 2023

C E Page

2

C E

Page

1 reference

7 February 2023

C Klein

3

C

Klein

1 reference

7 February 2023

J W Hewett

4

J W

Hewett

1 reference

7 February 2023

M Mineta

5

M

Mineta

1 reference

7 February 2023

J Leung

6

J

Leung

1 reference

7 February 2023

C Shalish

7

C

Shalish

1 reference

7 February 2023

D de Leon

9

D

de Leon

1 reference

7 February 2023

M F Brin

10

M F

Brin

1 reference

7 February 2023

S Fahn

11

S

Fahn

1 reference

7 February 2023

D P Corey

12

D P

Dystonia in Ashkenazi Jews: clinical characterization of a founder mutation

Corey

1 reference

7 February 2023

language of work or name

English

0 references

publication date

15 December 1999

0 references

published in

Genomics

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volume

62

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issue

3

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page(s)

377-84

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cites work

1 reference

https://api.crossref.org/works/10.1006%2FGENO.1999.6039

7 January 2021

Expression of the early-onset torsion dystonia gene (DYT1) in human brain.

1 reference

https://api.crossref.org/works/10.1006%2FGENO.1999.6039

7 January 2021

A 200-amino acid ATPase module in search of a basic function

1 reference

https://api.crossref.org/works/10.1006%2FGENO.1999.6039

7 January 2021

Identification and characterization of HsIV HsIU (ClpQ ClpY) proteins involved in overall proteolysis of misfolded proteins in Escherichia coli.

1 reference

https://api.crossref.org/works/10.1006%2FGENO.1999.6039

7 January 2021

A point mutation in the tyrosine hydroxylase gene associated with Segawa's syndrome

1 reference

https://api.crossref.org/works/10.1006%2FGENO.1999.6039

7 January 2021

Clinical and molecular genetics of primary dystonias

1 reference

https://api.crossref.org/works/10.1006%2FGENO.1999.6039

7 January 2021

Human gene for torsion dystonia located on chromosome 9q32-q34.

1 reference

https://api.crossref.org/works/10.1006%2FGENO.1999.6039

7 January 2021

HSP100/Clp proteins: a common mechanism explains diverse functions

1 reference

https://api.crossref.org/works/10.1006%2FGENO.1999.6039

7 January 2021

KCNQ4, a novel potassium channel expressed in sensory outer hair cells, is mutated in dominant deafness

1 reference

https://api.crossref.org/works/10.1006%2FGENO.1999.6039

7 January 2021

Crystal structure of the hexamerization domain of N-ethylmaleimide-sensitive fusion protein

1 reference

https://api.crossref.org/works/10.1006%2FGENO.1999.6039

7 January 2021

Intranuclear neuronal inclusions: a common pathogenic mechanism for glutamine-repeat neurodegenerative diseases?

1 reference

https://api.crossref.org/works/10.1006%2FGENO.1999.6039

7 January 2021

Neurotransmitter release - four years of SNARE complexes

1 reference

https://api.crossref.org/works/10.1006%2FGENO.1999.6039

7 January 2021

NSF--fusion and beyond

1 reference

https://api.crossref.org/works/10.1006%2FGENO.1999.6039

7 January 2021

Self-compartmentalizing proteases.

1 reference

https://api.crossref.org/works/10.1006%2FGENO.1999.6039

7 January 2021

The hexamerization domain of N-ethylmaleimide-sensitive factor: structural clues to chaperone function

1 reference

https://api.crossref.org/works/10.1006%2FGENO.1999.6039

7 January 2021

Dihydropteridine reductase deficiency localized to the central nervous system

1 reference

https://api.crossref.org/works/10.1006%2FGENO.1999.6039

7 January 2021

A review of biochemical and molecular genetic aspects of tyrosine hydroxylase deficiency including a novel mutation (291delC).

1 reference

https://api.crossref.org/works/10.1006%2FGENO.1999.6039

7 January 2021

Structure of the ATP-dependent oligomerization domain of N-ethylmaleimide sensitive factor complexed with ATP

1 reference

https://api.crossref.org/works/10.1006%2FGENO.1999.6039

7 January 2021

The early-onset torsion dystonia gene (DYT1) encodes an ATP-binding protein

1 reference

https://api.crossref.org/works/10.1006%2FGENO.1999.6039

7 January 2021

Hereditary progressive dystonia with marked diurnal fluctuation caused by mutations in the GTP cyclohydrolase I gene

1 reference

https://api.crossref.org/works/10.1006%2FGENO.1999.6039

7 January 2021

Chaperone-supervised conversion of prion protein to its protease-resistant form

1 reference

https://api.crossref.org/works/10.1006%2FGENO.1999.6039

7 January 2021

Association of a missense change in the D2 dopamine receptor with myoclonus dystonia

1 reference

https://api.crossref.org/works/10.1006%2FGENO.1999.6039

7 January 2021

N-ethylmaleimide-sensitive fusion protein: a trimeric ATPase whose hydrolysis of ATP is required for membrane fusion

1 reference

https://api.crossref.org/works/10.1006%2FGENO.1999.6039

7 January 2021

Genetic testing for early-onset torsion dystonia (DYT1): introduction of a simple screening method, experiences from testing of a large patient cohort, and ethical aspects.

1 reference

https://api.crossref.org/works/10.1006%2FGENO.1999.6039

7 January 2021

Recessively inherited L-DOPA-responsive dystonia caused by a point mutation (Q381K) in the tyrosine hydroxylase gene

1 reference

https://api.crossref.org/works/10.1006%2FGENO.1999.6039

7 January 2021

De novo mutations (GAG deletion) in the DYT1 gene in two non-Jewish patients with early-onset dystonia.

1 reference

https://api.crossref.org/works/10.1006%2FGENO.1999.6039

7 January 2021

CLUSTAL W: improving the sensitivity of progressive multiple sequence alignment through sequence weighting, position-specific gap penalties and weight matrix choice

1 reference

https://api.crossref.org/works/10.1006%2FGENO.1999.6039

7 January 2021

Protein quality control: triage by chaperones and proteases

1 reference

https://api.crossref.org/works/10.1006%2FGENO.1999.6039

7 January 2021

Fine localization of the torsion dystonia gene (DYT1) on human chromosome 9q34: YAC map and linkage disequilibrium

1 reference

https://api.crossref.org/works/10.1006%2FGENO.1999.6039

7 January 2021

A rapid and non-radioactive PCR based assay for the detection of allelic loss in human gliomas.

1 reference

https://api.crossref.org/works/10.1006%2FGENO.1999.6039

7 January 2021

Aggregation of huntingtin in neuronal intranuclear inclusions and dystrophic neurites in brain

1 reference

https://api.crossref.org/works/10.1006%2FGENO.1999.6039

7 January 2021

The function of heat-shock proteins in stress tolerance: degradation and reactivation of damaged proteins

1 reference

https://api.crossref.org/works/10.1006%2FGENO.1999.6039

7 January 2021

Trinucleotide repeats in neurogenetic disorders

1 reference

https://api.crossref.org/works/10.1006%2FGENO.1999.6039

7 January 2021