Expression profile of a Caenorhabditis elegans model of adult neuronal ceroid lipofuscinosis reveals down regulation of ubiquitin E3 ligase components

E3 Ligase ◽

Down Regulation ◽

Ceroid Lipofuscinosis ◽

Faculty Opinions recommendation of Down-regulation of intestinal apical calcium entry channel TRPV6 by ubiquitin E3 ligase Nedd4-2.

Faculty Opinions – Post-Publication Peer Review of the Biomedical Literature ◽

10.3410/f.7219958.7468056 ◽

2010 ◽

Author(s):

Chris Yun ◽

Peijian He

Keyword(s):

E3 Ligase ◽

Calcium Entry ◽

Down Regulation ◽

Caenorhabditis elegans dnj-14, the orthologue of the DNAJC5 gene mutated in adult onset neuronal ceroid lipofuscinosis, provides a new platform for neuroprotective drug screening and identifies a SIR-2.1-independent action of resveratrol

Human Molecular Genetics ◽

10.1093/hmg/ddu316 ◽

2014 ◽

Vol 23 (22) ◽

pp. 5916-5927 ◽

Cited By ~ 27

Author(s):

Sudhanva S. Kashyap ◽

James R. Johnson ◽

Hannah V. McCue ◽

Xi Chen ◽

Matthew J. Edmonds ◽

...

Keyword(s):

Caenorhabditis Elegans ◽

Drug Screening ◽

Adult Onset ◽

Independent Action ◽

Down-regulation of Intestinal Apical Calcium Entry Channel TRPV6 by Ubiquitin E3 Ligase Nedd4-2

Journal of Biological Chemistry ◽

10.1074/jbc.m110.175968 ◽

2010 ◽

Vol 285 (47) ◽

pp. 36586-36596 ◽

Cited By ~ 29

Author(s):

Wei Zhang ◽

Tao Na ◽

Guojin Wu ◽

Haiyan Jing ◽

Ji-Bin Peng

Keyword(s):

E3 Ligase ◽

Calcium Entry ◽

Down Regulation ◽

Caenorhabditis elegans homologues of the CLN3 gene,mutated in juvenile neuronal ceroid lipofuscinosis

European Journal of Paediatric Neurology ◽

10.1053/ejpn.2000.0446 ◽

2001 ◽

Vol 5 ◽

pp. 115-120 ◽

Cited By ~ 4

Author(s):

Gert De Voer ◽

Gert Jansen ◽

Gert-Jan B. Van Ommen ◽

Dorien J.M. Peters ◽

Peter E.M. Taschner

Keyword(s):

Caenorhabditis Elegans ◽

Juvenile Neuronal Ceroid Lipofuscinosis ◽

Deletion of the Caenorhabditis elegans homologues of the CLN3 gene, involved in human juvenile neuronal ceroid lipofuscinosis, causes a mild progeric phenotype

Journal of Inherited Metabolic Disease ◽

10.1007/s10545-005-0125-7 ◽

2005 ◽

Vol 28 (6) ◽

pp. 1065-1080 ◽

Cited By ~ 13

Author(s):

G. de Voer ◽

P. van der Bent ◽

A. J. G. Rodrigues ◽

G.-J. B. van Ommen ◽

D. J. M. Peters ◽

...

Keyword(s):

Caenorhabditis Elegans ◽

Juvenile Neuronal Ceroid Lipofuscinosis ◽

VARIANT LATE INFANTILE NEURONAL CEROID LIPOFUSCINOSIS – A NOVEL C>G MISSENSE MUTATION AT THE CLN8 GENE – THE FIRST CASE OUTSIDE FINLAND OR TURKEY

Neuropediatrics ◽

10.1055/s-2006-943686 ◽

2006 ◽

Vol 37 (S 1) ◽

Author(s):

N Zelnik ◽

M Mahajnah ◽

TC Iancu ◽

M Ziegler

Keyword(s):

Missense Mutation ◽

Infantile Neuronal Ceroid Lipofuscinosis ◽

Ceroid Lipofuscinosis ◽

First Case

A murine model of infantile neuronal ceroid lipofuscinosis - Ultrastructural evaluation of storage in the central nervous system and viscera

Pediatric and Developmental Pathology ◽

10.2350/07-03-0242 ◽

2006 ◽

Vol preprint (2007) ◽

pp. 1

Author(s):

Nancy Galvin ◽

Carole Vogler ◽

Beth Levy ◽

Attila Kovacs ◽

Megan Griffey ◽

...

Keyword(s):

Central Nervous System ◽

Nervous System ◽

Murine Model ◽

Infantile Neuronal Ceroid Lipofuscinosis ◽

Ceroid Lipofuscinosis ◽

The Central Nervous System

Faculty Opinions recommendation of Mutations in CUL4B, which encodes a ubiquitin E3 ligase subunit, cause an X-linked mental retardation syndrome associated with aggressive outbursts, seizures, relative macrocephaly, central obesity, hypogonadism, pes cavus, and tremor.

Faculty Opinions – Post-Publication Peer Review of the Biomedical Literature ◽

10.3410/f.1070689.523598 ◽

2007 ◽

Author(s):

Hans van Bokhoven

Keyword(s):

Mental Retardation ◽

Central Obesity ◽

E3 Ligase ◽

Pes Cavus ◽

Faculty Opinions recommendation of MHC class I molecules are preferentially ubiquitinated on endoplasmic reticulum luminal residues during HRD1 ubiquitin E3 ligase-mediated dislocation.

Faculty Opinions – Post-Publication Peer Review of the Biomedical Literature ◽

10.3410/f.718063056.793481908 ◽

2013 ◽

Author(s):

Karin Romisch

Keyword(s):

Endoplasmic Reticulum ◽

Mhc Class I ◽

E3 Ligase ◽

Class I ◽

Ubiquitin E3 Ligase ◽

Mhc Class I Molecules

Neuronal Ceroid Lipofuscinosis: The Increasing Spectrum of an Old Disease

Current Molecular Medicine ◽

10.2174/1566524014666141010154913 ◽

2014 ◽

Vol 14 (8) ◽

pp. 1043-1051 ◽

Cited By ~ 12

Author(s):

A. Simonati ◽

F. Pezzini ◽

F. Moro ◽

F.M. Santorelli

Keyword(s):