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Polyglutamine Repeats in Neurodegenerative Diseases

Annual review of pathology, 2019-01, Vol.14, p.1

2019

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Npc1 acting in neurons and glia is essential for the formation and maintenance of CNS myelin

PLoS genetics, 2013-04, Vol.9 (4), p.e1003462-e1003462

2013

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Targeting Hsp90/Hsp70-Based Protein Quality Control for Treatment of Adult Onset Neurodegenerative Diseases

Annual review of pharmacology and toxicology, 2015-01, Vol.55 (1), p.353-371

2015

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Autophagy in lysosomal storage disorders

Autophagy, 2012-05, Vol.8 (5), p.719-730

2012

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Impaired proteolysis underlies autophagic dysfunction in Niemann―Pick type C disease

Human molecular genetics, 2012-11, Vol.21 (22), p.4876-4887

2012

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Lipid storage disorders block lysosomal trafficking by inhibiting a TRP channel and lysosomal calcium release

Nature communications, 2012-03, Vol.3 (1), p.731-731, Article 731

2012

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Pathogenic alpha-synuclein aggregates preferentially bind to mitochondria and affect cellular respiration

Acta neuropathologica communications, 2019-03, Vol.7 (1), p.41-41, Article 41

2019

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Coordinate regulation of mutant NPC1 degradation by selective ER autophagy and MARCH6-dependent ERAD

Nature communications, 2018-09, Vol.9 (1), p.3671-13, Article 3671

2018

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Polyglutamine androgen receptor-mediated neuromuscular disease

Cellular and molecular life sciences : CMLS, 2016-11, Vol.73 (21), p.3991-3999

2016

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Peripheral Androgen Receptor Gene Suppression Rescues Disease in Mouse Models of Spinal and Bulbar Muscular Atrophy

Cell reports (Cambridge), 2014-05, Vol.7 (3), p.774-784

2014

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Rapid Intraoperative Diagnosis of Pediatric Brain Tumors Using Stimulated Raman Histology

Cancer research (Chicago, Ill.), 2018-01, Vol.78 (1), p.278-289

2018

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Loss of NPC1 enhances phagocytic uptake and impairs lipid trafficking in microglia

Nature communications, 2021-02, Vol.12 (1), p.1158-1158, Article 1158

2021

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Peri-Infarct Upregulation of the Oxytocin Receptor in Vascular Dementia

Journal of neuropathology and experimental neurology, 2019-05, Vol.78 (5), p.436-452

2019

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Lysosome and endoplasmic reticulum quality control pathways in Niemann-pick type C disease

Brain research, 2016-10, Vol.1649 (Pt B), p.181-188

2016

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Macroautophagy is regulated by the UPR-mediator CHOP and accentuates the phenotype of SBMA mice

PLoS genetics, 2011-10, Vol.7 (10), p.e1002321-e1002321

2011

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Rescue of Metabolic Alterations in AR113Q Skeletal Muscle by Peripheral Androgen Receptor Gene Silencing

Cell reports (Cambridge), 2016-09, Vol.17 (1), p.125-136

2016

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Genome-wide DNA methylation differences between late-onset Alzheimer's disease and cognitively normal controls in human frontal cortex

Journal of Alzheimer's disease, 2012-01, Vol.29 (3), p.571

2012

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Activation of Hsp70 reduces neurotoxicity by promoting polyglutamine protein degradation

Nature chemical biology, 2013-02, Vol.9 (2), p.112

2013

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The cholesterol transporter NPC1 is essential for epigenetic regulation and maturation of oligodendrocyte lineage cells

Nature communications, 2023-07, Vol.14 (1), p.3964-3964, Article 3964

2023

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Autophagy in Niemann-Pick C disease is dependent upon Beclin-1 and responsive to lipid trafficking defects

Human molecular genetics, 2007-06, Vol.16 (12), p.1495-1503

2007

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Hsp70 and Hsp40 inhibit an inter-domain interaction necessary for transcriptional activity in the androgen receptor

Nature communications, 2019-08, Vol.10 (1), p.3562-14, Article 3562

2019

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A murine Niemann-Pick C1 I1061T knock-in model recapitulates the pathological features of the most prevalent human disease allele

The Journal of neuroscience, 2015-05, Vol.35 (21), p.8091-8106

2015

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Glycolytic-to-oxidative fiber-type switch and mTOR signaling activation are early-onset features of SBMA muscle modified by high-fat diet

Acta neuropathologica, 2016-07, Vol.132 (1), p.127-144

2016

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Neuromuscular junction pathology is correlated with differential motor unit vulnerability in spinal and bulbar muscular atrophy

Acta neuropathologica communications, 2022-07, Vol.10 (1), p.97-97, Article 97

2022

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Polyglutamine Repeats in Neurodegenerative Diseases

Npc1 acting in neurons and glia is essential for the formation and maintenance of CNS myelin

Targeting Hsp90/Hsp70-Based Protein Quality Control for Treatment of Adult Onset Neurodegenerative Diseases

Autophagy in lysosomal storage disorders

Impaired proteolysis underlies autophagic dysfunction in Niemann―Pick type C disease

Lipid storage disorders block lysosomal trafficking by inhibiting a TRP channel and lysosomal calcium release

Pathogenic alpha-synuclein aggregates preferentially bind to mitochondria and affect cellular respiration

Coordinate regulation of mutant NPC1 degradation by selective ER autophagy and MARCH6-dependent ERAD

Polyglutamine androgen receptor-mediated neuromuscular disease

Peripheral Androgen Receptor Gene Suppression Rescues Disease in Mouse Models of Spinal and Bulbar Muscular Atrophy

Rapid Intraoperative Diagnosis of Pediatric Brain Tumors Using Stimulated Raman Histology

Loss of NPC1 enhances phagocytic uptake and impairs lipid trafficking in microglia

Peri-Infarct Upregulation of the Oxytocin Receptor in Vascular Dementia

Lysosome and endoplasmic reticulum quality control pathways in Niemann-pick type C disease

Macroautophagy is regulated by the UPR-mediator CHOP and accentuates the phenotype of SBMA mice

Rescue of Metabolic Alterations in AR113Q Skeletal Muscle by Peripheral Androgen Receptor Gene Silencing

Genome-wide DNA methylation differences between late-onset Alzheimer's disease and cognitively normal controls in human frontal cortex

Activation of Hsp70 reduces neurotoxicity by promoting polyglutamine protein degradation

The cholesterol transporter NPC1 is essential for epigenetic regulation and maturation of oligodendrocyte lineage cells

Autophagy in Niemann-Pick C disease is dependent upon Beclin-1 and responsive to lipid trafficking defects

Hsp70 and Hsp40 inhibit an inter-domain interaction necessary for transcriptional activity in the androgen receptor

A murine Niemann-Pick C1 I1061T knock-in model recapitulates the pathological features of the most prevalent human disease allele

Glycolytic-to-oxidative fiber-type switch and mTOR signaling activation are early-onset features of SBMA muscle modified by high-fat diet

Neuromuscular junction pathology is correlated with differential motor unit vulnerability in spinal and bulbar muscular atrophy

Defective excitation-contraction coupling and mitochondrial respiration precede mitochondrial Ca2+ accumulation in spinobulbar muscular atrophy skeletal muscle

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