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232 Results Found

  • Article
  • Open Access
14 Citations
9,160 Views
13 Pages

A Novel Triplet-Primed PCR Assay to Detect the Full Range of Trinucleotide CAG Repeats in the Huntingtin Gene (HTT)

  • Alessandro De Luca,
  • Annunziata Morella,
  • Federica Consoli,
  • Sergio Fanelli,
  • Julie R. Thibert,
  • Sarah Statt,
  • Gary J. Latham and
  • Ferdinando Squitieri

8 February 2021

The expanded CAG repeat number in HTT gene causes Huntington disease (HD), which is a severe, dominant neurodegenerative illness. The accurate determination of the expanded allele size is crucial to confirm the genetic status in symptomatic and presy...

  • Article
  • Open Access
6 Citations
3,787 Views
18 Pages

Functional Characterisation of the Circular RNA, circHTT(2-6), in Huntington’s Disease

  • Laura Gantley,
  • Brett W. Stringer,
  • Vanessa M. Conn,
  • Youichirou Ootsuka,
  • Duncan Holds,
  • Mark Slee,
  • Kamelya Aliakbari,
  • Kirsty Kirk,
  • Rebecca J. Ormsby and
  • Simon J. Conn
  • + 4 authors

7 May 2023

Trinucleotide repeat disorders comprise ~20 severe, inherited, human neuromuscular and neurodegenerative disorders, which result from an abnormal expansion of repetitive sequences in the DNA. The most common of these, Huntington’s disease (HD),...

  • Article
  • Open Access
6 Citations
2,474 Views
11 Pages

BcHTT4 Inhibits Branching of Non-Heading Chinese Cabbage at the Vegetative Stage

  • Mingliang Guo,
  • Lanlan Xu,
  • Yan Long,
  • Feiyi Huang,
  • Tongkun Liu,
  • Ying Li and
  • Xilin Hou

9 March 2021

Branching is speculated to contribute to the plant architecture and crop yield. As a quantitative trait, branching is regulated by multiple genes in non-heading Chinese cabbage (NHCC). Several related candidate genes have been discovered in previous...

  • Communication
  • Open Access
6 Citations
4,111 Views
6 Pages

14 October 2016

The serotonergic system has been shown to be implicated in the regulation of mood and feeding behavior. Previous studies have identified a polymorphism in the 5′-flanking region of the serotonin transporter ( 5 - HTT ) gene of Lohmann Brown (LB) lay...

  • Review
  • Open Access
6 Citations
3,527 Views
14 Pages

Regulation of HTT mRNA Biogenesis: The Norm and Pathology

  • Alexandra E. Zubkova and
  • Dmitry V. Yudkin

26 October 2024

Huntington’s disease (HD) is a neurodegenerative disorder caused by the expansion of the CAG repeat in exon 1 of the HTT gene, leading to the formation of a toxic variant of the huntingtin protein. It is a rare but severe hereditary disease for...

  • Article
  • Open Access
3 Citations
2,414 Views
21 Pages

Roscovitine, a CDK Inhibitor, Reduced Neuronal Toxicity of mHTT by Targeting HTT Phosphorylation at S1181 and S1201 In Vitro

  • Hongshuai Liu,
  • Ainsley McCollum,
  • Asvini Krishnaprakash,
  • Yuxiao Ouyang,
  • Tianze Shi,
  • Tamara Ratovitski,
  • Mali Jiang,
  • Wenzhen Duan,
  • Christopher A. Ross and
  • Jing Jin

16 November 2024

Huntington’s disease (HD) is an autosomal dominant neurodegenerative disease caused by a single mutation in the huntingtin gene (HTT). Normal HTT has a CAG trinucleotide repeat at its N-terminal within the range of 36. However, once the CAG rep...

  • Article
  • Open Access
61 Citations
6,841 Views
19 Pages

Rolling Bearing Fault Diagnosis Based on an Improved HTT Transform

  • Bin Pang,
  • Guiji Tang,
  • Tian Tian and
  • Chong Zhou

14 April 2018

When rolling bearing failure occurs, vibration signals generally contain different signal components, such as impulsive fault feature signals, background noise and harmonic interference signals. One of the most challenging aspects of rolling bearing...

  • Article
  • Open Access
7 Citations
3,362 Views
23 Pages

5-HTT Deficiency in Male Mice Affects Healing and Behavior after Myocardial Infarction

  • Sandy Popp,
  • Angelika Schmitt-Böhrer,
  • Simon Langer,
  • Ulrich Hofmann,
  • Leif Hommers,
  • Kai Schuh,
  • Stefan Frantz,
  • Klaus-Peter Lesch and
  • Anna Frey

14 July 2021

Anxiety disorders and depression are common comorbidities in cardiac patients. Mice lacking the serotonin transporter (5-HTT) exhibit increased anxiety-like behavior. However, the role of 5-HTT deficiency on cardiac aging, and on healing and remodeli...

  • Case Report
  • Open Access
6 Citations
3,503 Views
5 Pages

22 September 2019

Huntington’s disease is caused by at least 36 cytosine-adenine-guanine (CAG) repeats in an HTT gene allele, but repeat tracts in the intermediate range (27–35 repeats) also display a subtle phenotype. This patient had a slightly elongated CAG repeat...

  • Review
  • Open Access
25 Citations
6,780 Views
20 Pages

22 June 2020

Huntington’s disease is a severe and currently incurable neurodegenerative disease. An autosomal dominant mutation in the Huntingtin gene (HTT) causes an increase in the polyglutamine fragment length at the protein N-terminus. The consequence o...

  • Article
  • Open Access
13 Citations
5,984 Views
32 Pages

The Proteasome Activators Blm10/PA200 Enhance the Proteasomal Degradation of N-Terminal Huntingtin

  • Azzam Aladdin,
  • Yanhua Yao,
  • Ciyu Yang,
  • Günther Kahlert,
  • Marvi Ghani,
  • Nikolett Király,
  • Anita Boratkó,
  • Karen Uray,
  • Gunnar Dittmar and
  • Krisztina Tar

20 November 2020

The Blm10/PA200 family of proteasome activators modulates the peptidase activity of the core particle (20S CP). They participate in opening the 20S CP gate, thus facilitating the degradation of unstructured proteins such as tau and Dnm1 in a ubiquiti...

  • Feature Paper
  • Review
  • Open Access
25 Citations
7,118 Views
16 Pages

14 June 2018

The mechanism of intercellular transmission of pathological agents in neurodegenerative diseases has received much recent attention. Huntington’s disease (HD) is caused by a monogenic mutation in the gene encoding Huntingtin (HTT). Mutant HTT (...

  • Article
  • Open Access
392 Views
14 Pages

Proteasomal Degradation of Mutant Huntingtin Exon1 Regulates Autophagy

  • Austin Folger,
  • Chuan Chen,
  • Phasin Gonzalez,
  • Sophia L. Owutey and
  • Yanchang Wang

30 December 2025

Accumulation of misfolded proteins is implicated in neurodegenerative diseases. One of these is Huntington’s disease, which is caused by an expansion of trinucleotide (CAG) repeats in exon 1 of huntingtin gene (HTT). This expansion results in t...

  • Review
  • Open Access
12 Citations
4,071 Views
25 Pages

Huntington’s Disease (HD) is a devastating neurodegenerative disorder caused by a CAG trinucleotide repeat expansion in the HTT gene, for which no disease modifying therapies are currently available. Much of the recent research has focused on d...

  • Review
  • Open Access
5 Citations
4,143 Views
12 Pages

Role of TFEB in Huntington’s Disease

  • Javier Ojalvo-Pacheco,
  • Sokhna M. S. Yakhine-Diop,
  • José M. Fuentes,
  • Marta Paredes-Barquero and
  • Mireia Niso-Santano

4 April 2024

Huntington’s disease (HD) is an autosomal dominant neurodegenerative disease caused by an expansion of the CAG trinucleotide repeat in exon 1 of the huntingtin (HTT) gene. This expansion leads to a polyglutamine (polyQ) tract at the N-terminal...

  • Brief Report
  • Open Access
2,159 Views
8 Pages

The Huntington’s Disease Gene in an Italian Cohort of Patients with Bipolar Disorder

  • Camilla Ferrari,
  • Elena Capacci,
  • Silvia Bagnoli,
  • Assunta Ingannato,
  • Sandro Sorbi and
  • Benedetta Nacmias

25 August 2023

Background and objectives: Huntington’s disease (HD) is characterized by motor, cognitive and psychiatric manifestations and caused by an expansion of CAG repeats over 35 triplets on the huntingtin (HTT) gene. However, expansions in the range 2...

  • Article
  • Open Access
8 Citations
3,662 Views
11 Pages

The Effect of CAG Repeats within the Non-Pathological Range in the HTT Gene on Cognitive Functions in Patients with Subjective Cognitive Decline and Mild Cognitive Impairment

  • Valentina Bessi,
  • Salvatore Mazzeo,
  • Silvia Bagnoli,
  • Giulia Giacomucci,
  • Assunta Ingannato,
  • Camilla Ferrari,
  • Sonia Padiglioni,
  • Virginia Franchi,
  • Sandro Sorbi and
  • Benedetta Nacmias

The Huntingtin gene (HTT) is within a class of genes containing a key region of CAG repeats. When expanded beyond 39 repeats, Huntington disease (HD) develops. Individuals with less than 35 repeats are not associated with HD. Increasing evidence has...

  • Article
  • Open Access
4 Citations
3,197 Views
20 Pages

Transposable Elements Shape the Genome Diversity and the Evolution of Noctuidae Species

  • Chunhui Zhang,
  • Lei Wang,
  • Liang Dou,
  • Bisong Yue,
  • Jinchuan Xing and
  • Jing Li

10 June 2023

Noctuidae is known to have high species diversity, although the genomic diversity of Noctuidae species has yet to be studied extensively. Investigation of transposable elements (TEs) in this family can improve our understanding of the genomic diversi...

  • Review
  • Open Access
19 Citations
5,131 Views
12 Pages

Peripheral Biomarkers in Manifest and Premanifest Huntington’s Disease

  • Emanuele Morena,
  • Carmela Romano,
  • Martina Marconi,
  • Selene Diamant,
  • Maria Chiara Buscarinu,
  • Gianmarco Bellucci,
  • Silvia Romano,
  • Daniela Scarabino,
  • Marco Salvetti and
  • Giovanni Ristori

Huntington’s disease (HD) is characterized by clinical motor impairment (e.g., involuntary movements, poor coordination, parkinsonism), cognitive deficits, and psychiatric symptoms. An inhered expansion of the CAG triplet in the huntingtin gene...

  • Review
  • Open Access
93 Citations
16,012 Views
20 Pages

Therapeutic Advances for Huntington’s Disease

  • Ashok Kumar,
  • Vijay Kumar,
  • Kritanjali Singh,
  • Sukesh Kumar,
  • You-Sam Kim,
  • Yun-Mi Lee and
  • Jong-Joo Kim

12 January 2020

Huntington’s disease (HD) is a progressive neurological disease that is inherited in an autosomal fashion. The cause of disease pathology is an expansion of cytosine-adenine-guanine (CAG) repeats within the huntingtin gene (HTT) on chromosome 4...

  • Article
  • Open Access
20 Citations
5,766 Views
18 Pages

DNA Methyltransferase 1 (DNMT1) Acts on Neurodegeneration by Modulating Proteostasis-Relevant Intracellular Processes

  • Cathrin Bayer,
  • Georg Pitschelatow,
  • Nina Hannemann,
  • Jenice Linde,
  • Julia Reichard,
  • Daniel Pensold and
  • Geraldine Zimmer-Bensch

The limited regenerative capacity of neurons requires a tightly orchestrated cell death and survival regulation in the context of longevity, as well as age-associated and neurodegenerative diseases. Subordinate to genetic networks, epigenetic mechani...

  • Article
  • Open Access
4 Citations
2,602 Views
13 Pages

Uncovering the Genetic and Molecular Features of Huntington’s Disease in Northern Colombia

  • Mostapha Ahmad,
  • Margarita R. Ríos-Anillo,
  • Johan E. Acosta-López,
  • Martha L. Cervantes-Henríquez,
  • Martha Martínez-Banfi,
  • Wilmar Pineda-Alhucema,
  • Pedro Puentes-Rozo,
  • Cristian Sánchez-Barros,
  • Andrés Pinzón and
  • Manuel Sánchez-Rojas
  • + 5 authors

10 November 2023

Huntington’s disease (HD) is a genetic disorder caused by a CAG trinucleotide expansion in the huntingtin (HTT) gene. Juan de Acosta, Atlántico, a city located on the Caribbean coast of Colombia, is home to the world’s second-large...

  • Article
  • Open Access
11 Citations
5,888 Views
14 Pages

Evaluation of the Relationship between 5-HTT and MAO Gene Polymorphisms, Mood and Level of Anxiety among Postmenopausal Women

  • Elżbieta Grochans,
  • Anna Jurczak,
  • Małgorzata Szkup,
  • Agnieszka Samochowiec,
  • Anna Włoszczak-Szubzda,
  • Beata Karakiewicz,
  • Anna Grzywacz,
  • Agnieszka Brodowska and
  • Jerzy Samochowiec

Objective: The aim of this study was to analyze how mood and anxiety level are related to the functional genetic polymorphism in the promoter region of SLC6A4 (5-HTTLPR) and the 30-bp VNTR polymorphism in the MAO A promoter region. Methods: The stud...

  • Article
  • Open Access
3 Citations
4,045 Views
18 Pages

HPA Axis Responsiveness Associates with Central Serotonin Transporter Availability in Human Obesity and Non-Obesity Controls

  • Christian Schinke,
  • Michael Rullmann,
  • Julia Luthardt,
  • Mandy Drabe,
  • Elisa Preller,
  • Georg A. Becker,
  • Marianne Patt,
  • Ralf Regenthal,
  • Franziska Zientek and
  • Swen Hesse
  • + 2 authors

25 October 2022

Background: Alterations of hypothalamic–pituitary–adrenal (HPA) axis activity and serotonergic signaling are implicated in the pathogenesis of human obesity and may contribute to its metabolic and mental complications. The association of...

  • Article
  • Open Access
2 Citations
2,961 Views
7 Pages

Description of the First Registered Case of Lopes–Maciel–Rodan Syndrome in Russia

  • Yuliya S. Koshevaya,
  • Aleksey V. Kusakin,
  • Natalia V. Buchinskaia,
  • Valentina V. Pechnikova,
  • Elena A. Serebryakova,
  • Alexander L. Koroteev,
  • Andrey S. Glotov and
  • Oleg S. Glotov

18 October 2022

Lopes–Maciel–Rodan syndrome (LOMARS) is an extremely rare disorder, with only a few cases reported worldwide. LOMARS is caused by a compound heterozygous mutation in the HTT gene. Little is known about LOMARS pathogenesis and clinical man...

  • Article
  • Open Access
8 Citations
3,509 Views
16 Pages

The accumulation of aggregated protein is a typical hallmark of many human neurodegenerative disorders, including polyglutamine-related diseases such as chorea Huntington. Misfolding of the amyloidogenic proteins gives rise to self-assembled complexe...

  • Article
  • Open Access
39 Citations
9,047 Views
18 Pages

Intrastriatal Administration of AAV5-miHTT in Non-Human Primates and Rats Is Well Tolerated and Results in miHTT Transgene Expression in Key Areas of Huntington Disease Pathology

  • Elisabeth A. Spronck,
  • Astrid Vallès,
  • Margit H. Lampen,
  • Paula S. Montenegro-Miranda,
  • Sonay Keskin,
  • Liesbeth Heijink,
  • Melvin M. Evers,
  • Harald Petry,
  • Sander J. van Deventer and
  • Martin de Haan
  • + 1 author

20 January 2021

Huntington disease (HD) is a fatal, neurodegenerative genetic disorder with aggregation of mutant Huntingtin protein (mutHTT) in the brain as a key pathological mechanism. There are currently no disease modifying therapies for HD; however, HTT-loweri...

  • Review
  • Open Access
20 Citations
9,778 Views
27 Pages

The Tiny Drosophila Melanogaster for the Biggest Answers in Huntington’s Disease

  • Abraham Rosas-Arellano,
  • Argel Estrada-Mondragón,
  • Ricardo Piña,
  • Carola A. Mantellero and
  • Maite A. Castro

The average life expectancy for humans has increased over the last years. However, the quality of the later stages of life is low and is considered a public health issue of global importance. Late adulthood and the transition into the later stage of...

  • Article
  • Open Access
14 Citations
4,227 Views
16 Pages

29 April 2022

The transformation from a fossil-based economy to a sustainable and circular bioeconomy is urgently needed to achieve the climate targets of the Paris Agreement, reduce air pollution and ensure a long-term competitive economy. Due to its carbonaceous...

  • Article
  • Open Access
9 Citations
5,227 Views
18 Pages

Functional Intercellular Transmission of miHTT via Extracellular Vesicles: An In Vitro Proof-of-Mechanism Study

  • Roberto D. V. S. Morais,
  • Marina Sogorb-González,
  • Citlali Bar,
  • Nikki C. Timmer,
  • M. Leontien Van der Bent,
  • Morgane Wartel and
  • Astrid Vallès

3 September 2022

Huntington’s disease (HD) is a fatal neurodegenerative disorder caused by GAG expansion in exon 1 of the huntingtin (HTT) gene. AAV5-miHTT is an adeno-associated virus serotype 5-based vector expressing an engineered HTT-targeting microRNA (miH...

  • Article
  • Open Access
4 Citations
2,793 Views
13 Pages

Low-Temperature Hydrothermal Treatment (HTT) Improves the Combustion Properties of Short-Rotation Coppice Willow Wood by Reducing Emission Precursors

  • Sebastian Paczkowski,
  • Victoria Knappe,
  • Marta Paczkowska,
  • Luis Alonzo Diaz Robles,
  • Dirk Jaeger and
  • Stefan Pelz

7 December 2021

The worldwide transformation from fossil fuels to sustainable energy sources will increase the demand for biomass. However, the ash content of many available biomass sources exceeds the limits of national standards. In this study, short-rotation copp...

  • Review
  • Open Access
50 Citations
7,918 Views
26 Pages

Pathogenesis of Huntington’s Disease: An Emphasis on Molecular Pathways and Prevention by Natural Remedies

  • Zainab Irfan,
  • Sofia Khanam,
  • Varnita Karmakar,
  • Sayeed Mohammed Firdous,
  • Bothaina Samih Ismail Abou El Khier,
  • Ilyas Khan,
  • Muneeb U. Rehman and
  • Andleeb Khan

14 October 2022

Background: Huntington’s disease is an inherited autosomal dominant trait neuro-degenerative disorder caused by changes (mutations) of a gene called huntingtin (htt) that is located on the short arm (p) of chromosome 4, CAG expansion mutation....

  • Article
  • Open Access
670 Views
15 Pages

Exploring Mitochondrial DNA Copy Number in Italian Children with ADHD: Implications for Neurobiological Mechanisms

  • Luigi Citrigno,
  • Annamaria Cerantonio,
  • Ludovico Neri,
  • Pierluigi Sebastiani,
  • Alessia Colanardi,
  • Gabriele Turacchio,
  • Tiziana Del Beato,
  • Beatrice Marziani and
  • Anna Aureli

19 November 2025

Background: Attention-deficit/hyperactivity disorder (ADHD) is a neurodevelopmental condition frequently accompanied by behavioral dysregulation. While genetic factors involving monoaminergic systems have been implicated, emerging evidence suggests a...

  • Article
  • Open Access
14 Citations
5,009 Views
12 Pages

29 June 2017

A new method for the separation, pre-concentration and accurate determination of trace amounts of Pb and Cd in water samples using Amberlite XAD-16 resin functionalized with a new chelating ligand, 3-(2-hydroxyphenyl)-1H-1,2,4-triazole-5(4H)-thione (...

  • Review
  • Open Access
40 Citations
12,535 Views
19 Pages

17 September 2013

Accumulation of misfolded proteins has been implicated in a variety of neurodegenerative diseases including prion diseases, Alzheimer’s disease (AD), Parkinson’s disease (PD), and Huntington’s disease (HD). In the past decade, single-chain fragment...

  • Review
  • Open Access
19 Citations
5,102 Views
27 Pages

Targeting Protein Aggregates with Natural Products: An Optional Strategy for Neurodegenerative Diseases

  • Lingzhi Xiang,
  • Yanan Wang,
  • Shenkui Liu,
  • Beidong Liu,
  • Xuejiao Jin and
  • Xiuling Cao

Protein aggregation is one of the hallmarks of aging and aging-related diseases, especially for the neurodegenerative diseases (NDs) such as Alzheimer’s disease (AD), Parkinson’s disease (PD), Huntington’s disease (HD), Amyotrophic...

  • Article
  • Open Access
10 Citations
4,847 Views
11 Pages

SLC6A3 (DAT1) as a Novel Candidate Biomarker Gene for Suicidal Behavior

  • Ekaterina Rafikova,
  • Maria Shadrina,
  • Peter Slominsky,
  • Alla Guekht,
  • Alexey Ryskov,
  • Dmitry Shibalev and
  • Vasiliy Vasilyev

4 June 2021

It has been previously shown that the serotonin and dopamine neurotransmitter systems might influence the predisposition to suicidal behavior. This study aims to estimate the contribution of 11 polymorphisms in the genes SLC6A4 (5HTT), HTR1A, HTR2A,...

  • Article
  • Open Access
3 Citations
6,751 Views
13 Pages

Aggressiveness in Italian Children with ADHD: MAOA Gene Polymorphism Involvement

  • Ludovico Neri,
  • Beatrice Marziani,
  • Pierluigi Sebastiani,
  • Tiziana Del Beato,
  • Alessia Colanardi,
  • Maria Pia Legge and
  • Anna Aureli

31 March 2024

ADHD is a neurodevelopmental disorder that children and adults can develop. A complex interplay of genetic and environmental factors may underlie interindividual variability in ADHD and potentially related aggressive behavior. Using high-resolution m...

  • Article
  • Open Access
10 Citations
4,238 Views
28 Pages

Fear Extinction and Predictive Trait-Like Inter-Individual Differences in Rats Lacking the Serotonin Transporter

  • Maria Willadsen,
  • Metin Uengoer,
  • Anna Sługocka,
  • Rainer K.W. Schwarting,
  • Judith R. Homberg and
  • Markus Wöhr

Anxiety disorders are associated with a failure to sufficiently extinguish fear memories. The serotonergic system (5-hydroxytryptamine, 5-HT) with the 5-HT transporter (5-HTT, SERT) is strongly implicated in the regulation of anxiety and fear. In the...

  • Feature Paper
  • Article
  • Open Access
5 Citations
3,373 Views
16 Pages

HTR1A, TPH2, and 5-HTTLPR Polymorphisms and Their Impact on the Severity of Depressive Symptoms and on the Concentration of Tryptophan Catabolites during Hepatitis C Treatment with Pegylated Interferon-α2a and Oral Ribavirin (PEG-IFN-α2a/RBV)

  • Tomasz Pawlowski,
  • Krzysztof Malyszczak,
  • Dariusz Pawlak,
  • Małgorzata Inglot,
  • Małgorzata Zalewska,
  • Anna Grzywacz,
  • Marek Radkowski,
  • Tomasz Laskus,
  • Justyna Janocha-Litwin and
  • Dorota Frydecka

22 March 2023

Background: Seeing that there are no data about associations between serotonin gene polymorphism and tryptophan catabolite concentration during PEG-IFN-α2a treatment, the aim of the current study is to examine (a) the associations between polym...

  • Article
  • Open Access
4 Citations
3,394 Views
20 Pages

C57BL/6 Background Attenuates mHTT Toxicity in the Striatum of YAC128 Mice

  • Michaela K. Back,
  • Johanna Kurzawa,
  • Sonia Ruggieri and
  • Jakob von Engelhardt

23 November 2021

Mouse models are frequently used to study Huntington’s disease (HD). The onset and severity of neuronal and behavioral pathologies vary greatly between HD mouse models, which results from different huntingtin expression levels and different CAG...

  • Article
  • Open Access
3 Citations
1,664 Views
12 Pages

18 July 2014

An insertion/deletion polymorphism in the promoter region of the serotonin transporter gene (5-HTTLPR) and a polymorphism (rs6313) in the serotonin 2A receptor gene (5-HT2A) have previously been linked to smoking behavior. The objective of this study...

  • Review
  • Open Access
9 Citations
5,520 Views
17 Pages

Huntingtin Interacting Proteins and Pathological Implications

  • Li Liu,
  • Huichun Tong,
  • Yize Sun,
  • Xingxing Chen,
  • Tianqi Yang,
  • Gongke Zhou,
  • Xiao-Jiang Li and
  • Shihua Li

22 August 2023

Huntington’s disease (HD) is caused by an expansion of a CAG repeat in the gene that encodes the huntingtin protein (HTT). The exact function of HTT is still not fully understood, and previous studies have mainly focused on identifying proteins...

  • Review
  • Open Access
1,169 Views
26 Pages

11 November 2025

Huntingtin (HTT) is a large, ubiquitously expressed scaffold protein that participates in multiple cellular processes, including vesicular transport, transcriptional regulation, and energy metabolism. The mutant form of HTT (mHTT), characterized by a...

  • Article
  • Open Access
1 Citations
2,888 Views
27 Pages

Huntington’s disease is a rare neurodegenerative and autosomal dominant disorder. HD is caused by a mutation in the gene coding for huntingtin (Htt). The result is the production of a mutant Htt with an abnormally long polyglutamine repeat that leads...

  • Article
  • Open Access
930 Views
18 Pages

Coiled-Coil Structures Mediate the Intercellular Propagation of Huntingtin

  • Marco Bosica,
  • Chiara Grasselli,
  • Andrea Panfili,
  • Franca Orsini and
  • Luana Fioriti

22 August 2025

Huntington’s Disease (HD) originates from the expansion of a polyglutamine (PolyQ) tract in the huntingtin protein (Htt), which can assume a coiled-coil fold (Cc). We previously found that Cc structures mediate the aggregation and toxicity of p...

  • Review
  • Open Access
15 Citations
5,445 Views
23 Pages

6 December 2021

Huntington Disease (HD) is a dominant, lethal neurodegenerative disorder caused by the abnormal expansion (>35 copies) of a CAG triplet located in exon 1 of the HTT gene encoding the huntingtin protein (Htt). Mutated Htt (mHtt) easily aggregates,...

  • Article
  • Open Access
33 Citations
7,014 Views
13 Pages

GLP-1 Analogue Liraglutide Attenuates Mutant Huntingtin-Induced Neurotoxicity by Restoration of Neuronal Insulin Signaling

  • Ching-Chi Chang,
  • Tzu-Chin Lin,
  • Hsiao-Li Ho,
  • Chien-Yin Kuo,
  • Hsin-Hua Li,
  • Tatiana A. Korolenko,
  • Wei-Jen Chen,
  • Te-Jen Lai,
  • Ying-Jui Ho and
  • Chih-Li Lin

Huntington’s disease (HD) is a progressive and fatal neurodegenerative disease caused by CAG repeat expansion in the coding region of huntingtin (HTT) protein. The accumulation of mutant HTT (mHTT) contributes to neurotoxicity by causing autoph...

  • Review
  • Open Access
12 Citations
6,231 Views
25 Pages

Non-Cell Autonomous and Epigenetic Mechanisms of Huntington’s Disease

  • Chaebin Kim,
  • Ali Yousefian-Jazi,
  • Seung-Hye Choi,
  • Inyoung Chang,
  • Junghee Lee and
  • Hoon Ryu

19 November 2021

Huntington’s disease (HD) is a rare neurodegenerative disorder caused by an expansion of CAG trinucleotide repeat located in the exon 1 of Huntingtin (HTT) gene in human chromosome 4. The HTT protein is ubiquitously expressed in the brain. Spec...

  • Article
  • Open Access
6 Citations
4,079 Views
17 Pages

Kynurenine 3-Monooxygenase Interacts with Huntingtin at the Outer Mitochondrial Membrane

  • Aisha M. Swaih,
  • Carlo Breda,
  • Korrapati V. Sathyasaikumar,
  • Natalie Allcock,
  • Mary E. W. Collier,
  • Robert P. Mason,
  • Adam Feasby,
  • Federico Herrera,
  • Tiago F. Outeiro and
  • Flaviano Giorgini
  • + 2 authors

15 September 2022

The flavoprotein kynurenine 3-monooxygenase (KMO) is localised to the outer mitochondrial membrane and catalyses the synthesis of 3-hydroxykynurenine from L-kynurenine, a key step in the kynurenine pathway (KP) of tryptophan degradation. Perturbation...

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