| Nucleation of Huntingtin Aggregation Proceeds via Conformational Conversion of Pre-Formed, Sparsely-Populated Tetramers. | Nucleation of Huntingtin Aggregation Proceeds via Conformational Conversion of Pre-Formed, Sparsely-Populated Tetramers.
Torricella F, Tugarinov V, Clore GM., Free PMC Article | 11/4/2024 |
| Mutant huntingtin impairs neurodevelopment in human brain organoids through CHCHD2-mediated neurometabolic failure. | Mutant huntingtin impairs neurodevelopment in human brain organoids through CHCHD2-mediated neurometabolic failure.
Lisowski P, Lickfett S, Rybak-Wolf A, Menacho C, Le S, Pentimalli TM, Notopoulou S, Dykstra W, Oehler D, López-Calcerrada S, Mlody B, Otto M, Wu H, Richter Y, Roth P, Anand R, Kulka LAM, Meierhofer D, Glazar P, Legnini I, Telugu NS, Hahn T, Neuendorf N, Miller DC, Böddrich A, Polzin A, Mayatepek E, Diecke S, Olzscha H, Kirstein J, Ugalde C, Petrakis S, Cambridge S, Rajewsky N, Kühn R, Wanker EE, Priller J, Metzger JJ, Prigione A., Free PMC Article | 10/3/2024 |
| Huntingtin CAG repeats in neuropathologically confirmed tauopathies: Novel insights. | Huntingtin CAG repeats in neuropathologically confirmed tauopathies: Novel insights.
Pérez-Oliveira S, Castilla-Silgado J, Painous C, Aldecoa I, Menéndez-González M, Blázquez-Estrada M, Corte D, Tomás-Zapico C, Compta Y, Muñoz E, Lladó A, Balasa M, Aragonès G, García-González P, Rosende-Roca M, Boada M, Ruíz A, Pastor P, De la Casa-Fages B, Rabano A, Sánchez-Valle R, Molina-Porcel L, Álvarez V., Free PMC Article | 08/20/2024 |
| Somatic CAG repeat instability in intermediate alleles of the HTT gene and its potential association with a clinical phenotype. | Somatic CAG repeat instability in intermediate alleles of the HTT gene and its potential association with a clinical phenotype.
Ruiz de Sabando A, Ciosi M, Galbete A, Cumming SA, Spanish HD Collaborative Group, Monckton DG, Ramos-Arroyo MA., Free PMC Article | 07/25/2024 |
| Evidence of mutant huntingtin and tau-related pathology within neuronal grafts in Huntington's disease cases. | Evidence of mutant huntingtin and tau-related pathology within neuronal grafts in Huntington's disease cases.
Salem S, Kilgore MD, Anwer M, Maxan A, Child D, Bird TD, Keene CD, Cicchetti F, Latimer C. | 07/1/2024 |
| Mono- and Biallelic Inactivation of Huntingtin Gene in Patient-Specific Induced Pluripotent Stem Cells Reveal HTT Roles in Striatal Development and Neuronal Functions. | Mono- and Biallelic Inactivation of Huntingtin Gene in Patient-Specific Induced Pluripotent Stem Cells Reveal HTT Roles in Striatal Development and Neuronal Functions.
Louessard M, Cailleret M, Jarrige M, Bigarreau J, Lenoir S, Dufour N, Rey M, Saudou F, Deglon N, Perrier AL., Free PMC Article | 04/2/2024 |
| Huntingtin HTT1a is generated in a CAG repeat-length-dependent manner in human tissues. | Huntingtin HTT1a is generated in a CAG repeat-length-dependent manner in human tissues.
Hoschek F, Natan J, Wagner M, Sathasivam K, Abdelmoez A, von Einem B, Bates GP, Landwehrmeyer GB, Neueder A., Free PMC Article | 03/15/2024 |
| Cell-type-specific CAG repeat expansions and toxicity of mutant Huntingtin in human striatum and cerebellum. | Cell-type-specific CAG repeat expansions and toxicity of mutant Huntingtin in human striatum and cerebellum.
Mätlik K, Baffuto M, Kus L, Deshmukh AL, Davis DA, Paul MR, Carroll TS, Caron MC, Masson JY, Pearson CE, Heintz N., Free PMC Article | 03/15/2024 |
| A mother and her daughter carrying a pathogenic expansion of the HTT gene with a phenotype encompassing motor neuron disease and Huntington's disease. | A mother and her daughter carrying a pathogenic expansion of the HTT gene with a phenotype encompassing motor neuron disease and Huntington's disease.
Canosa A, Cabras S, Di Pede F, Manera U, Vasta R, Moglia C, Calvo A, Gallone S, Chiò A. | 03/7/2024 |
| Interaction between huntingtin exon 1 and HEAT repeat structure probed by chimeric model proteins. | Interaction between huntingtin exon 1 and HEAT repeat structure probed by chimeric model proteins.
Zhang H, Wu S, Itzhaki LS, Perrett S., | 11/30/2023 |
| Mutant huntingtin confers cell-autonomous phenotypes on Huntington's disease iPSC-derived microglia. | Mutant huntingtin confers cell-autonomous phenotypes on Huntington's disease iPSC-derived microglia.
Stöberl N, Donaldson J, Binda CS, McAllister B, Hall-Roberts H, Jones L, Massey TH, Allen ND., Free PMC Article | 11/27/2023 |
| The HSPB1-p62/SQSTM1 functional complex regulates the unconventional secretion and transcellular spreading of the HD-associated mutant huntingtin protein. | The HSPB1-p62/SQSTM1 functional complex regulates the unconventional secretion and transcellular spreading of the HD-associated mutant huntingtin protein.
Bonavita R, Scerra G, Di Martino R, Nuzzo S, Polishchuk E, Di Gennaro M, Williams SV, Caporaso MG, Caiazza C, Polishchuk R, D'Agostino M, Fleming A, Renna M., Free PMC Article | 07/17/2023 |
| Aptamer Reduces Aggregation of Mutant Huntingtin and Rescues Proteostasis Network in Non-Neuronal and Neuronal Cells. | Aptamer Reduces Aggregation of Mutant Huntingtin and Rescues Proteostasis Network in Non-Neuronal and Neuronal Cells.
Jain S, Roy I. | 06/28/2023 |
| Normal range CAG repeat size variations in the HTT gene are associated with an adverse lipoprotein profile partially mediated by body mass index. | Normal range CAG repeat size variations in the HTT gene are associated with an adverse lipoprotein profile partially mediated by body mass index.
Faquih TO, Aziz NA, Gardiner SL, Li-Gao R, de Mutsert R, Milaneschi Y, Trompet S, Jukema JW, Rosendaal FR, van Hylckama Vlieg A, van Dijk KW, Mook-Kanamori DO., Free PMC Article | 05/8/2023 |
| The structure of pathogenic huntingtin exon 1 defines the bases of its aggregation propensity. | The structure of pathogenic huntingtin exon 1 defines the bases of its aggregation propensity.
Elena-Real CA, Sagar A, Urbanek A, Popovic M, Morató A, Estaña A, Fournet A, Doucet C, Lund XL, Shi ZD, Costa L, Thureau A, Allemand F, Swenson RE, Milhiet PE, Crehuet R, Barducci A, Cortés J, Sinnaeve D, Sibille N, Bernadó P. | 03/23/2023 |
| Spanish HTT gene study reveals haplotype and allelic diversity with possible implications for germline expansion dynamics in Huntington disease. | Spanish HTT gene study reveals haplotype and allelic diversity with possible implications for germline expansion dynamics in Huntington disease.
Ruiz de Sabando A, Urrutia Lafuente E, Galbete A, Ciosi M, García Amigot F, García Solaesa V, Spanish HD Collaborative group, Monckton DG, Ramos-Arroyo MA., Free PMC Article | 03/13/2023 |
| Huntingtin turnover: modulation of huntingtin degradation by cAMP-dependent protein kinase A (PKA) phosphorylation of C-HEAT domain Ser2550. | Huntingtin turnover: modulation of huntingtin degradation by cAMP-dependent protein kinase A (PKA) phosphorylation of C-HEAT domain Ser2550.
Lee Y, Kim H, Barker D, Vijayvargia R, Atwal RS, Specht H, Keshishian H, Carr SA, Lee R, Kwak S, Hyun KG, Loupe J, MacDonald ME, Song JJ, Seong IS. | 01/28/2023 |
| Alternative processing of human HTT mRNA with implications for Huntington's disease therapeutics. | Alternative processing of human HTT mRNA with implications for Huntington's disease therapeutics.
Fienko S, Landles C, Sathasivam K, McAteer SJ, Milton RE, Osborne GF, Smith EJ, Jones ST, Bondulich MK, Danby ECE, Phillips J, Taxy BA, Kordasiewicz HB, Bates GP., Free PMC Article | 12/24/2022 |
| Clinical and Molecular Findings of Intermediate Allele Carriers in the HTT Gene from the Mexican Mestizo Population. | Clinical and Molecular Findings of Intermediate Allele Carriers in the HTT Gene from the Mexican Mestizo Population.
Ramírez-García MÁ, Dávila-Ortiz de Montellano DJ, Martínez-Ruano L, Ochoa-Morales A, Romero-Hidalgo S, Zenteno JC, Yescas-Gómez P. | 11/26/2022 |
| N-terminal mutant huntingtin deposition correlates with CAG repeat length and symptom onset, but not neuronal loss in Huntington's disease. | N-terminal mutant huntingtin deposition correlates with CAG repeat length and symptom onset, but not neuronal loss in Huntington's disease.
Layburn FE, Tan AYS, Mehrabi NF, Curtis MA, Tippett LJ, Turner CP, Riguet N, Aeschbach L, Lashuel HA, Dragunow M, Faull RLM, Singh-Bains MK. | 11/5/2022 |
| Intermediate and Expanded HTT Alleles and the Risk for alpha-Synucleinopathies. | Intermediate and Expanded HTT Alleles and the Risk for α-Synucleinopathies.
Pérez-Oliveira S, Álvarez I, Rosas I, Menendez-González M, Blázquez-Estrada M, Aguilar M, Corte D, Buongiorno M, Molina-Porcel L, Aldecoa I, Martí MJ, Sánchez-Juan P, Infante J, González-Aramburu I, García-González P, Rosende-Roca M, Boada M, Ruiz A, Periñán MT, Macías-García D, Muñoz-Delgado L, Gómez-Garre P, Mir P, Clarimón J, Lleo A, Alcolea D, De la Casa-Fages B, Duarte I, Álvarez V, Pastor P. | 09/24/2022 |
| Huntingtin and Its Partner Huntingtin-Associated Protein 40: Structural and Functional Considerations in Health and Disease. | Huntingtin and Its Partner Huntingtin-Associated Protein 40: Structural and Functional Considerations in Health and Disease.
Seefelder M, Klein FAC, Landwehrmeyer B, Fernández-Busnadiego R, Kochanek S., Free PMC Article | 09/17/2022 |
| Behavioral features in child and adolescent huntingtin gene-mutation carriers. | Behavioral features in child and adolescent huntingtin gene-mutation carriers.
Reasoner EE, van der Plas E, Al-Kaylani HM, Langbehn DR, Conrad AL, Schultz JL, Epping EA, Magnotta VA, Nopoulos PC., Free PMC Article | 07/30/2022 |
| Structural Basis of Huntingtin Fibril Polymorphism Revealed by Cryogenic Electron Microscopy of Exon 1 HTT Fibrils. | Structural Basis of Huntingtin Fibril Polymorphism Revealed by Cryogenic Electron Microscopy of Exon 1 HTT Fibrils.
Nazarov S, Chiki A, Boudeffa D, Lashuel HA. | 07/2/2022 |
| Cortical Features in Child and Adolescent Carriers of Mutant Huntingtin (mHTT). | Cortical Features in Child and Adolescent Carriers of Mutant Huntingtin (mHTT).
Reasoner EE, van der Plas E, Langbehn DR, Conrad AL, Koscik TR, Epping EA, Magnotta VA, Nopoulos PC., Free PMC Article | 06/25/2022 |