Results 61 to 70 of about 37,609 (272)

Malestar psicológico en portadores y no portadores de la mutación causante de enfermedad de Huntington y su relación con la carga de la enfermedad

Neurología
Resumen: Introducción: La enfermedad de Huntington (EH) es un trastorno neurodegenerativo y hereditario. A partir del diagnóstico predictivo se han descrito características clínicas incipientes en la fase prodrómica, y varios estudios han reportado ...
Y. Rodríguez-Agudelo, M. Chávez-Oliveros, A. Ochoa-Morales, L. Martínez-Ruano, A. Camacho-Molina, F. Paz-Rodríguez   +5 more
doaj   +1 more source

Short-interval observational data to inform clinical trial design in Huntington's disease.

, 2015
OBJECTIVES: To evaluate candidate outcomes for disease-modifying trials in Huntington's disease (HD) over 6-month, 9-month and 15-month intervals, across multiple domains.
Roos, Raymund AC, Cole, James H, Sprengelmeyer, R, Cole, JH, Mueller, H.P., Malone, IB, Hobbs, Nicola Z., Durr, Alexandra, Johnson, H., Mueller, Hans-Peter, Roos, R.A.C., Scahill, R.I., Sprengelmeyer, Reiner, Haider, Salman, Frost, C, Hobbs, Nicola Z, Hobbs, N.Z., Farmer, RE, Farmer, R.E., Tabrizi, S.J., Cole, James H.; id_orcid, Durr, A, Tabrizi, SJ, Johnson, H, Sussmuth, S.D., Tabrizi, Sarah J., Farmer, Ruth E, Rees, Elin M, Scahill, Rachael I, Hobbs, NZ, Haider, S., Frost, Chris, Farmer, Ruth E., Mueller, Hans Peter, Landwehrmeyer, B., Cole, James H., Sprengelmeyer, R., Sussmuth, Sigurd D., Malone, Ian B, Malone, I.B., Landwehrmeyer, B, Durr, A., Rees, Elin M., Roos, RA, Scahill, Rachael I., Malone, Ian B., Rees, EM, Landwehrmeyer, Bernhard, Tabrizi, Sarah J, Frost, C., Sussmuth, Sigurd D, Mueller, HP, Scahill, RI, Sussmuth, SD, Cole, J.H., Roos, Raymund A.C., Sprengelmeyer, Reiner Heinrich, Haider, S, Johnson, Hans, Rees, E.M.   +59 more
core   +1 more source

Heat Shock Protein 90: From Molecular Chaperone Function to Therapeutic Targeting in Malignancies

Advanced Science, EarlyView.
In this review, an integrated conceptual framework linking HSP90's molecular chaperone functions to its pathological roles in cancer is proposed. HSP90 serves as a central node that integrates oncogenic signaling, buffers proteotoxic stress, maintains cancer stem cell plasticity, and shapes tumor‐immune interactions, all of which converge to drive ...
Beibei Zhang, Xinxin Zou, Jiansong Zhou, Qinmiao Sun, Dahua Chen   +4 more
wiley   +1 more source

Altered Adipocyte Cell Size Distribution Prior to Weight Loss in the R6/2 Model of Huntington's Disease

, 2023
BACKGROUND: Metabolic alterations contribute to disease onset and prognosis of Huntington's disease (HD). Weight loss in the R6/2 mouse model of HD is a consistent feature, with onset in mid-to-late stage of disease.
Björkqvist, Maria,, Dickson, Elna,, Soylu-Kucharz, Rana,, Fryklund, Claes,, Sjögren, Marie,, Lund University., Stenkula, Karin G,   +6 more
core   +1 more source

PRMT9 Aggravated Dopaminergic Neurodegeneration in Parkinson's Disease Model by Facilitating the Degradation of DUSP26 and Inducing Mitochondrial Dysfunction

Advanced Science, EarlyView.
In the pathological state of PD induced by MPP+, the upregulated PRMT9 in dopaminergic neurons translocates into mitochondrion and interacts with DUSP26 and catalyzes its arginine methylation, leading to the ubiquitin‐proteasomal degradation of DUSP26 mediated by Trim32.
Tengfei Liu, Xiaomeng Song, Xin Guo, Rui Xiao, Ru Sun, Qiuran Ji, Lu Yu, Yiquan Li, Qingyi Fu, Qidi Xue, Lingjun Kong, Lin Chen, Chengjiang Gao, Huiqing Liu   +13 more
wiley   +1 more source

A Case Report: Psychotic Disorder Related to Huntington‘s Disease [PDF]

Düşünen Adam Psikiyatri ve Nörolojik Bilimler Dergisi, 2004
Basal ganglia disorders are characterised by the presence of abnormal movements, psychiatric signs and symptoms, and varying degrees of cognitive impairment. Huntington's disease (HD), one of basal ganglia disorders is is an autosomal, dominant disorder.
Çağatay Karşıdağ, Rıdvan Üney, Ahmet Kocabıyık, Reşit Kükürt, Nihat Alpay, Cengiz Dayan   +5 more
doaj  

Juvenile Huntington’s disease

Анналы клинической и экспериментальной неврологии, 2017
Juvenile Huntingtons disease (JHD) manifests in 1st2nddecades of life and accounts for 29% of all cases ofHuntingtons disease; its pathogenic mechanisms are related togenetic anticipation and imprinting.
G. E. Rudenskaya, D. A. Savvin, V. P. Fedotov, S. A. Kurbatov, A. V. Polyakov, N. M. Galeeva   +5 more
doaj   +1 more source

TDP‐43 Aggregation: The Healthy‐Toxic Balance of the Prion‐Like Domain

Advanced Science, EarlyView.
TDP‐43 function relies on a delicate balance between reversible phase‐separated states and irreversible aggregation. Under physiological conditions, TDP‐43 forms dynamic droplets and oligomers that support normal cellular functions. In pathological contexts, this balance shifts toward aberrant aggregation, leading to toxic species.
Luca Zangrando, Emanuele Buratti, Francesca Paron   +2 more
wiley   +1 more source

Live axonal transport disruption by mutant huntingtin fragments in Drosophila motor neuron axons [PDF]

, 2009
Huntington's Disease is a neurodegenerative condition caused by a polyglutamine expansion in thehuntingtin (Htt) protein, which aggregates and also causes neuronal dysfunction. Pathogenic N-terminal httfragments perturb axonal transport in vitro.
Burbidge-King, T., Thompson, LM, Sinadinos, Christopher, Sinadinos, C, Marsh, J.L, Soh, D, Wyttenbach, Andreas, Mudher, Amritpal, Wyttenbach, A, Marsh, JL, Soh, D., Burbidge-King, T, Mudher, AK, Thompson, L.M.   +13 more
core   +1 more source

Beyond Potency: Emerging Determinants and Optimization Strategies Enhancing Therapeutic Efficacy of Adult Stem Cells

Advanced Science, EarlyView.
Adult stem cell therapy requires more than high in vitro potency. This review proposes a systems framework in which cell‐intrinsic programs, instructive microenvironmental cues, and pre‐/post‐delivery engineering are co‐designed under standardized translational rules.
Soo‐Rim Kim, Yun Jae Jung, Hwa‐Yong Lee   +2 more
wiley   +1 more source