Results 1 to 10 of about 27,528 (227)

Decoding neuronal vulnerability: Multidimensional analysis of D1R- and D2R- medium-sized spiny neurons in Huntington's disease. [PDF]

Brain Pathol
D1R and D2R MSNs show distinct responses to Huntington's pathology. G&T‐sequencing of pre‐symptomatic MSNs reveals global LINE‐1 downregulation. While D1R‐MSNs display early transcriptomic changes (OXPHOS/translation upregulation) and reduced mutant huntingtin aggregation, D2R‐MSNs exhibit higher nuclear mHTT accumulation and greater CAG somatic ...
Bergonzoni G, Pellegrini M, Savino A, Lazioli M, Geurs S, Graziani L, Ferrarini D, Tusi SK, Oliver E, Geurts J, Vinciguerra S, Tebaldi M, Tripathi T, Pesce I, Poli V, Romanel A, Moratalla R, Voet T, Morandell J, Sanges R, Wheeler VC, Dassi E, Biagioli M.   +22 more
europepmc   +2 more sources

Huntingtin Aggregate-Responsive Autophagy Gene Circuit Mitigates Disease Pathology in R6/2 Mice. [PDF]

Adv Sci (Weinh)
CD98‐mediated receptor‐mediated transcytosis enables LIP‐CD98 nanocarriers to cross the blood–brain barrier and deliver ARAA to neurons. mHTT aggregates activate the 11G–NarX sensor, initiating Auto‐P and Trans‐P signaling through the VP48–NarL relay.
Zhu J, Xie XX, Li L, Tian C, Wang HT, Wang XJ, Yu XL, Zhang GF, Liu RT.   +8 more
europepmc   +2 more sources

HDDF2—A Novel Patient-Derived Fibroblast Line from Huntington’s Disease with Prominent Cellular Senescence and polyQ Pathology [PDF]

Biomedicines
Background/Objectives: Patient-derived cell lines retaining donor-specific age-related and genomic features are essential for modeling late-onset neurodegenerative disorders like Huntington’s disease (HD). This study aims to establish and comprehensively
Polina Parfenova, Nina Kraskovskaya, Anna Koltsova, Alla Shatrova, Natalia Yartseva, Natalia Mikhailova   +5 more
doaj   +2 more sources

Stimulating proteasomal degradation in human proteinopathies. [PDF]

FEBS J
The proteasome mediates the degradation of a wide range of proteins. Boosting proteasomal degradation may be beneficial in several disease contexts and can be achieved either by modulating proteasome activity or by improving substrate delivery. Proteasome activity can be enhanced by increasing proteasome abundance, inducing constitutive gate opening ...
Gierisch ME, Barchi E, Dantuma NP.
europepmc   +2 more sources

Full-length huntingtin is palmitoylated at multiple sites and post-translationally myristoylated following caspase-cleavage

Frontiers in Physiology, 2023
Introduction: Huntington disease is an autosomal dominant neurodegenerative disorder which is caused by a CAG repeat expansion in the HTT gene that codes for an elongated polyglutamine tract in the huntingtin (HTT) protein.
Fanny L. Lemarié, Shaun S. Sanders, Yen Nguyen, Dale D. O. Martin, Michael R. Hayden   +4 more
doaj   +1 more source

IKBKB reduces huntingtin aggregation by phosphorylating serine 13 via a non-canonical IKK pathway

Life Science Alliance, 2023
Early exposure of RA induced altered expressions of Wnt-related genes and subsequent osteogenic differentiation in embryonic mouse craniofacial prominences in a spatiotemporal-dependent manner.
Cristina Cariulo, Paola Martufi, Margherita Verani, Leticia Toledo-Sherman, Ramee Lee, Celia Dominguez, Lara Petricca, Andrea Caricasole   +7 more
doaj   +1 more source

Huntingtin is critical both pre- and postsynaptically for long-term learning-related synaptic plasticity in Aplysia. [PDF]

PLoS ONE, 2014
Patients with Huntington's disease exhibit memory and cognitive deficits many years before manifesting motor disturbances. Similarly, several studies have shown that deficits in long-term synaptic plasticity, a cellular basis of memory formation and ...
Yun-Beom Choi, Beena M Kadakkuzha, Xin-An Liu, Komolitdin Akhmedov, Eric R Kandel, Sathyanarayanan V Puthanveettil   +5 more
doaj   +1 more source

Comparative molecular dynamics simulations of pathogenic and non-pathogenic huntingtin protein monomers and dimers

Frontiers in Molecular Biosciences, 2023
Polyglutamine expansion at the N-terminus of the huntingtin protein exon 1 (Htt-ex1) is closely associated with a number of neurodegenerative diseases, which result from the aggregation of the increased polyQ repeat.
Mohammed Khaled, Birgit Strodel, Birgit Strodel, Abdallah Sayyed-Ahmad   +3 more
doaj   +1 more source

Significant Association Between Huntingtin Gene Mutation and Prevalence of Hopelessness, Depression and Anxiety Symptoms

Acta Medica Lituanica, 2021
Background: In Huntington’s disease psychiatric symptoms may manifest prior to motor dysfunction. Such symptoms negatively impact people’s quality of life and can worsen the course of the primary disease.
Adelė Butėnaitė, Robertas Strumila, Aistė Lengvenytė, Indrė Kotryna Pakutkaitė, Aušra Morkūnienė, Aušra Matulevičienė, Edgaras Dlugauskas, Algirdas Utkus   +7 more
doaj   +1 more source

Tissue Transglutaminase Selectively Modifies Proteins Associated with Truncated Mutant Huntingtin in Intact Cells

Neurobiology of Disease, 2001
The cause of Huntington's disease (HD) is a pathological expansion of the polyglutamine domain within the N-terminal region of huntingtin. Neuronal intranuclear inclusions and cytoplasmic aggregates composed of the mutant huntingtin within certain ...
Wanjoo Chun, Mathieu Lesort, Janusz Tucholski, Peter W. Faber, Marcy E. MacDonald, Christopher A. Ross, Gail V.W. Johnson   +6 more
doaj   +1 more source