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1.
Mutations causing Lopes-Maciel-Rodan syndrome are huntingtin hypomorphs.
Hum Mol Genet
; 30(3-4): 135-148, 2021 04 26.
Artículo
en Inglés
| MEDLINE | ID: mdl-33432339
2.
Promotion of somatic CAG repeat expansion by Fan1 knock-out in Huntington's disease knock-in mice is blocked by Mlh1 knock-out.
Hum Mol Genet
; 29(18): 3044-3053, 2020 11 04.
Artículo
en Inglés
| MEDLINE | ID: mdl-32876667
3.
Suppression of RGSz1 function optimizes the actions of opioid analgesics by mechanisms that involve the Wnt/ß-catenin pathway.
Proc Natl Acad Sci U S A
; 115(9): E2085-E2094, 2018 02 27.
Artículo
en Inglés
| MEDLINE | ID: mdl-29440403
4.
High resolution time-course mapping of early transcriptomic, molecular and cellular phenotypes in Huntington's disease CAG knock-in mice across multiple genetic backgrounds.
Hum Mol Genet
; 26(5): 913-922, 2017 03 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-28334820
5.
Phenotype onset in Huntington's disease knock-in mice is correlated with the incomplete splicing of the mutant huntingtin gene.
J Neurosci Res
; 97(12): 1590-1605, 2019 12.
Artículo
en Inglés
| MEDLINE | ID: mdl-31282030
6.
Mitochondrial Metabolism in a Large-Animal Model of Huntington Disease: The Hunt for Biomarkers in the Spermatozoa of Presymptomatic Minipigs.
Neurodegener Dis
; 17(4-5): 213-226, 2017.
Artículo
en Inglés
| MEDLINE | ID: mdl-28633139
7.
Aberrant splicing of HTT generates the pathogenic exon 1 protein in Huntington disease.
Proc Natl Acad Sci U S A
; 110(6): 2366-70, 2013 Feb 05.
Artículo
en Inglés
| MEDLINE | ID: mdl-23341618
8.
Mutated Huntingtin Causes Testicular Pathology in Transgenic Minipig Boars.
Neurodegener Dis
; 16(3-4): 245-59, 2016.
Artículo
en Inglés
| MEDLINE | ID: mdl-26959244
9.
Rescue from excitotoxicity and axonal degeneration accompanied by age-dependent behavioral and neuroanatomical alterations in caspase-6-deficient mice.
Hum Mol Genet
; 21(9): 1954-67, 2012 May 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-22262731
10.
Mind the gap: models in multiple species needed for therapeutic development in Huntington's disease.
Mov Disord
; 29(11): 1397-403, 2014 Sep 15.
Artículo
en Inglés
| MEDLINE | ID: mdl-25155258
11.
A novel BACHD transgenic rat exhibits characteristic neuropathological features of Huntington disease.
J Neurosci
; 32(44): 15426-38, 2012 Oct 31.
Artículo
en Inglés
| MEDLINE | ID: mdl-23115180
12.
Caspase-6 activity in a BACHD mouse modulates steady-state levels of mutant huntingtin protein but is not necessary for production of a 586 amino acid proteolytic fragment.
J Neurosci
; 32(22): 7454-65, 2012 May 30.
Artículo
en Inglés
| MEDLINE | ID: mdl-22649225
13.
An evaluation of the effectiveness of an advanced practice physiotherapist in the emergency department setting in Ireland.
Ir J Med Sci
; 2023 Nov 20.
Artículo
en Inglés
| MEDLINE | ID: mdl-37982978
14.
Levels of Synaptic Proteins in Brain and Neurofilament Light Chain in Cerebrospinal Fluid and Plasma of OVT73 Huntington's Disease Sheep Support a Prodromal Disease State.
J Huntingtons Dis
; 12(3): 201-213, 2023.
Artículo
en Inglés
| MEDLINE | ID: mdl-37661892
15.
Huntingtin loss in hepatocytes is associated with altered metabolism, adhesion, and liver zonation.
Life Sci Alliance
; 6(11)2023 11.
Artículo
en Inglés
| MEDLINE | ID: mdl-37684045
16.
Huntingtin loss in hepatocytes is associated with altered metabolism, adhesion, and liver zonation.
bioRxiv
; 2023 Jun 26.
Artículo
en Inglés
| MEDLINE | ID: mdl-37425835
17.
Benefits of global mutant huntingtin lowering diminish over time in a Huntington's disease mouse model.
JCI Insight
; 7(20)2022 10 24.
Artículo
en Inglés
| MEDLINE | ID: mdl-36278490
18.
Development of novel bioassays to detect soluble and aggregated Huntingtin proteins on three technology platforms.
Brain Commun
; 3(1): fcaa231, 2021.
Artículo
en Inglés
| MEDLINE | ID: mdl-33604571
19.
Transcriptional Assessment of Striatal mRNAs as Valid Biomarkers of Disease Progression in Three Mouse Models of Huntington's Disease.
J Huntingtons Dis
; 9(1): 13-31, 2020.
Artículo
en Inglés
| MEDLINE | ID: mdl-32007959
20.
Large Animal Models of Huntington's Disease: What We Have Learned and Where We Need to Go Next.
J Huntingtons Dis
; 9(3): 201-216, 2020.
Artículo
en Inglés
| MEDLINE | ID: mdl-32925082