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Permanent inactivation of Huntington's disease mutation by personalized allele-specific CRISPR/Cas9
Permanent inactivation of Huntington's disease mutation by personalized allele-specific CRISPR/Cas9
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Permanent inactivation of Huntington's disease mutation by personalized allele-specific CRISPR/Cas9

Shin, Jun Wan ; Kim, Kyung-Hee ; Chao, Michael J ; Atwal, Ranjit S ; Gillis, Tammy ; MacDonald, Marcy E ; Gusella, James F ; Lee, Jong-Min

Human molecular genetics, 2016-10, Vol.25 (20), p.4566-4576 [Periódico revisado por pares]

England: Oxford University Press

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2
FAN1 modifies Huntington's disease progression by stabilizing the expanded HTT CAG repeat
FAN1 modifies Huntington's disease progression by stabilizing the expanded HTT CAG repeat
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FAN1 modifies Huntington's disease progression by stabilizing the expanded HTT CAG repeat

Goold, Robert ; Flower, Michael ; Moss, Davina Hensman ; Medway, Chris ; Wood-Kaczmar, Alison ; Andre, Ralph ; Farshim, Pamela ; Bates, Gill P ; Holmans, Peter ; Jones, Lesley ; Tabrizi, Sarah J

Human molecular genetics, 2019-02, Vol.28 (4), p.650-661 [Periódico revisado por pares]

England: Oxford University Press

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3
Abnormal mitochondrial dynamics, mitochondrial loss and mutant huntingtin oligomers in Huntington's disease: implications for selective neuronal damage
Abnormal mitochondrial dynamics, mitochondrial loss and mutant huntingtin oligomers in Huntington's disease: implications for selective neuronal damage
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Abnormal mitochondrial dynamics, mitochondrial loss and mutant huntingtin oligomers in Huntington's disease: implications for selective neuronal damage

SHIRENDEB, Ulziibat ; REDDY, Arubala P ; MANCZAK, Maria ; CALKINS, Marcus J ; PEIZHONG MAO ; TAGLE, Danilo A ; HEMACHANDRA REDDYL, P

Human molecular genetics, 2011-04, Vol.20 (7), p.1438-1455 [Periódico revisado por pares]

Oxford: Oxford University Press

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4
Huntingtin is a scaffolding protein in the ATM oxidative DNA damage response complex
Huntingtin is a scaffolding protein in the ATM oxidative DNA damage response complex
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Huntingtin is a scaffolding protein in the ATM oxidative DNA damage response complex

Maiuri, Tamara ; Mocle, Andrew J ; Hung, Claudia L ; Xia, Jianrun ; van Roon-Mom, Willeke M C ; Truant, Ray

Human molecular genetics, 2017-01, Vol.26 (2), p.395-406 [Periódico revisado por pares]

England

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5
Targeting the UPR transcription factor XBP1 protects against Huntington's disease through the regulation of FoxO1 and autophagy
Targeting the UPR transcription factor XBP1 protects against Huntington's disease through the regulation of FoxO1 and autophagy
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Targeting the UPR transcription factor XBP1 protects against Huntington's disease through the regulation of FoxO1 and autophagy

VIDAL, Rene L ; FIGUEROA, Alicia ; GLIMCHER, Laurie H ; HETZ, Claudio ; COURT, Felipe A ; THIELEN, Peter ; MOLINA, Claudia ; WIRTH, Craig ; CABALLERO, Benjamin ; KIFFIN, Roberta ; SEGURA-AGUILAR, Juan ; MARIA CUERVO, Ana

Human molecular genetics, 2012-05, Vol.21 (10), p.2245-2262 [Periódico revisado por pares]

Oxford: Oxford University Press

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6
Mitochondria-targeted molecules MitoQ and SS31 reduce mutant huntingtin-induced mitochondrial toxicity and synaptic damage in Huntington's disease
Mitochondria-targeted molecules MitoQ and SS31 reduce mutant huntingtin-induced mitochondrial toxicity and synaptic damage in Huntington's disease
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Mitochondria-targeted molecules MitoQ and SS31 reduce mutant huntingtin-induced mitochondrial toxicity and synaptic damage in Huntington's disease

Yin, Xiangling ; Manczak, Maria ; Reddy, P Hemachandra

Human molecular genetics, 2016-05, Vol.25 (9), p.1739-1753 [Periódico revisado por pares]

England: Oxford University Press

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7
Bioenergetic deficits in Huntington's disease iPSC-derived neural cells and rescue with glycolytic metabolites
Bioenergetic deficits in Huntington's disease iPSC-derived neural cells and rescue with glycolytic metabolites
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Bioenergetic deficits in Huntington's disease iPSC-derived neural cells and rescue with glycolytic metabolites

Kedaigle, Amanda J ; Fraenkel, Ernest ; Atwal, Ranjit S ; Wu, Min ; Gusella, James F ; MacDonald, Marcy E ; Kaye, Julia A ; Finkbeiner, Steven ; Mattis, Virginia B ; Tom, Colton M ; Svendsen, Clive ; King, Alvin R ; Chen, Yumay ; Stocksdale, Jennifer T ; Lim, Ryan G ; Casale, Malcolm ; Wang, Ping H ; Thompson, Leslie M ; Akimov, Sergey S ; Ratovitski, Tamara ; Arbez, Nicolas ; Ross, Christopher A

Human molecular genetics, 2020-07, Vol.29 (11), p.1757-1771 [Periódico revisado por pares]

England: Oxford University Press

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8
A modifier of Huntington's disease onset at the MLH1 locus
A modifier of Huntington's disease onset at the MLH1 locus
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A modifier of Huntington's disease onset at the MLH1 locus

Lee, Jong-Min ; Chao, Michael J ; Harold, Denise ; Abu Elneel, Kawther ; Gillis, Tammy ; Holmans, Peter ; Jones, Lesley ; Orth, Michael ; Myers, Richard H ; Kwak, Seung ; Wheeler, Vanessa C ; MacDonald, Marcy E ; Gusella, James F

Human molecular genetics, 2017-10, Vol.26 (19), p.3859-3867 [Periódico revisado por pares]

England: Oxford University Press

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9
A potent and selective Sirtuin 1 inhibitor alleviates pathology in multiple animal and cell models of Huntington's disease
A potent and selective Sirtuin 1 inhibitor alleviates pathology in multiple animal and cell models of Huntington's disease
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A potent and selective Sirtuin 1 inhibitor alleviates pathology in multiple animal and cell models of Huntington's disease

Smith, Marianne R ; Syed, Adeela ; Lukacsovich, Tamas ; Purcell, Judy ; Barbaro, Brett A ; Worthge, Shane A ; Wei, Stephen R ; Pollio, Giuseppe ; Magnoni, Letizia ; Scali, Carla ; Massai, Luisa ; Franceschini, Davide ; Camarri, Michela ; Gianfriddo, Marco ; Diodato, Enrica ; Thomas, Russell ; Gokce, Ozgun ; Tabrizi, S.J ; Caricasole, Andrea ; Landwehrmeyer, Bernard ; Menalled, Liliana ; Murphy, Carol ; Ramboz, Sylvie ; Luthi-Carter, Ruth ; Westerberg, Goran ; Marsh, J. Lawrence

Human molecular genetics, 2014-06, Vol.23 (11), p.2995-3007 [Periódico revisado por pares]

England: Oxford University Press

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10
Mutant huntingtin reduction in astrocytes slows disease progression in the BACHD conditional Huntington's disease mouse model
Mutant huntingtin reduction in astrocytes slows disease progression in the BACHD conditional Huntington's disease mouse model
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Mutant huntingtin reduction in astrocytes slows disease progression in the BACHD conditional Huntington's disease mouse model

Wood, Tara E ; Barry, Joshua ; Yang, Zhenquin ; Cepeda, Carlos ; Levine, Michael S ; Gray, Michelle

Human molecular genetics, 2019-02, Vol.28 (3), p.487-500 [Periódico revisado por pares]

England: Oxford University Press

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