(Q34325033)

1 August 2017

Recessive loss of function of the neuronal ubiquitin hydrolase UCHL1 leads to early-onset progressive neurodegeneration (English)

1 reference

1 August 2017

20

Arthur L Horwich

0 references

Cengiz Yalcinkaya

object named as

Cengiz Yalcinkaya

11

0 references

Kaya Bilguvar

1

object named as

Kaya Bilguvar

1 reference

1 August 2017

18

Titus J Boggon

1 reference

1 August 2017

Navneet K Tyagi

2

1 reference

1 August 2017

Cigdem Ozkara

3

1 reference

1 August 2017

Beyhan Tuysuz

4

1 reference

1 August 2017

Mehmet Bakircioglu

5

1 reference

1 August 2017

Murim Choi

6

1 reference

1 August 2017

Sakir Delil

7

1 reference

1 August 2017

Ahmet O Caglayan

8

1 reference

1 August 2017

Jacob F Baranoski

9

1 reference

1 August 2017

Ozdem Erturk

10

1 reference

1 August 2017

Murat Karacorlu

12

1 reference

1 August 2017

Alp Dincer

13

1 reference

1 August 2017

Michele H Johnson

14

1 reference

1 August 2017

Shrikant Mane

15

1 reference

1 August 2017

Sreeganga S Chandra

16

1 reference

1 August 2017

Angeliki Louvi

17

1 reference

1 August 2017

Richard P Lifton

19

1 reference

1 August 2017

Murat Gunel

21

1 reference

1 August 2017

language of work or name

English

0 references

publication date

28 January 2013

1 reference

Proceedings of the National Academy of Sciences of the United States of America

1 August 2017

1 reference

1 August 2017

110

1 reference

1 August 2017

9

1 reference

1 August 2017

3489-3494

1 reference

Mutations in UBQLN2 cause dominant X-linked juvenile and adult-onset ALS and ALS/dementia

1 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3587195

Recessive LAMC3 mutations cause malformations of occipital cortical development

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3587195

The essential role of centrosomal NDE1 in human cerebral cortex neurogenesis

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3587195

Whole-exome sequencing identifies recessive WDR62 mutations in severe brain malformations

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3587195

Ubiquitin vinyl methyl ester binding orients the misaligned active site of the ubiquitin hydrolase UCHL1 into productive conformation

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3587195

Ubiquitin carboxyl-terminal hydrolase L1 is required for maintaining the structure and function of the neuromuscular junction

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3587195

Diffusion tensor imaging of Guillain-Mollaret triangle in patients with hypertrophic olivary degeneration.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3587195

Association between the ubiquitin carboxyl-terminal esterase L1 gene (UCHL1) S18Y variant and Parkinson's Disease: a HuGE review and meta-analysis

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3587195

Genetic diagnosis by whole exome capture and massively parallel DNA sequencing

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3587195

The Sequence Alignment/Map format and SAMtools

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3587195

Fast and accurate short read alignment with Burrows-Wheeler transform

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3587195

Mapping short DNA sequencing reads and calling variants using mapping quality scores

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3587195

PLINK: a tool set for whole-genome association and population-based linkage analyses

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3587195

Ubiquitin hydrolase Uch-L1 rescues beta-amyloid-induced decreases in synaptic function and contextual memory

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3587195

Structural basis for conformational plasticity of the Parkinson's disease-associated ubiquitin hydrolase UCH-L1

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3587195

The UCH-L1 gene encodes two opposing enzymatic activities that affect alpha-synuclein degradation and Parkinson's disease susceptibility

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3587195

Intragenic deletion in the gene encoding ubiquitin carboxy-terminal hydrolase in gad mice

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3587195

Low frequency of pathogenic mutations in the ubiquitin carboxy-terminal hydrolase gene in familial Parkinson's disease

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3587195

The ubiquitin pathway in Parkinson's disease.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3587195

Substrate binding and catalysis by ubiquitin C-terminal hydrolases: identification of two active site residues

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3587195

Gracile axonal dystrophy (GAD), a new neurological mutant in the mouse

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3587195

Neuropathology of gracile axonal dystrophy (GAD) mouse. An animal model of central distal axonopathy in primary sensory neurons

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3587195

The neuron-specific protein PGP 9.5 is a ubiquitin carboxyl-terminal hydrolase

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3587195

Axonal degeneration of ascending sensory neurons in gracile axonal dystrophy mutant mouse

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3587195

6 July 2018

1 reference

https://api.crossref.org/works/10.1073%2FPNAS.1222732110

Magnetic resonance diffusion tensor imaging (MRDTI) and tractography in children with septo-optic dysplasia.

21 January 2018

1 reference

https://api.crossref.org/works/10.1073%2FPNAS.1222732110

UCHL-1 is not a Parkinson's disease susceptibility gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1073%2FPNAS.1222732110

UCHL1 is a Parkinson's disease susceptibility gene.

21 January 2018

1 reference

https://api.crossref.org/works/10.1073%2FPNAS.1222732110

Oxidative modifications and down-regulation of ubiquitin carboxyl-terminal hydrolase L1 associated with idiopathic Parkinson's and Alzheimer's diseases

21 January 2018

1 reference

https://api.crossref.org/works/10.1073%2FPNAS.1222732110

Mutation analysis and association studies of the UCHL1 gene in German Parkinson's disease patients

21 January 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/23359680

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1073/PNAS.1222732110

1 reference

1 August 2017

0 references

1 reference

1 August 2017

1 reference