John Hardy Selected Research

Presenilin-1

1/2023	The PSEN1 E280G mutation leads to increased amyloid-β43 production in induced pluripotent stem cell neurons and deposition in brain tissue.
12/2021	Familial Alzheimer's Disease Mutations in PSEN1 Lead to Premature Human Stem Cell Neurogenesis.
1/2021	Spastic paraplegia preceding PSEN1-related familial Alzheimer's disease.
1/2019	Amyloid precursor protein processing in human neurons with an allelic series of the PSEN1 intron 4 deletion mutation and total presenilin-1 knockout.
10/2014	Exome sequencing identifies 2 novel presenilin 1 mutations (p.L166V and p.S230R) in British early-onset Alzheimer's disease.
6/2007	A presenilin 1 mutation (L420R) in a family with early onset Alzheimer disease, seizures and cotton wool plaques, but not spastic paraparesis.
5/2006	A presenilin-1 mutation (T245P) in transmembrane domain 6 causes early onset Alzheimer's disease.
7/2004	A new presenilin Alzheimer's disease case confirms the helical alignment of pathogenic mutations in transmembrane domain 5.
4/2004	The law of mass action applied to neurodegenerative disease: a hypothesis concerning the etiology and pathogenesis of complex diseases.
6/2003	Presenilin 1 mutation in an african american family presenting with atypical Alzheimer dementia.

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John Hardy Research Topics

Disease

129	Alzheimer Disease (Alzheimer's Disease) 02/2024 - 04/2002
67	Parkinson Disease (Parkinson's Disease) 12/2023 - 02/2002
41	Dementia (Dementias) 10/2023 - 03/2002
28	Neurodegenerative Diseases (Neurodegenerative Disease) 03/2023 - 02/2002
23	Frontotemporal Dementia (Semantic Dementia) 01/2019 - 03/2002
19	Parkinsonian Disorders (Parkinsonism) 06/2021 - 04/2003
18	Cognitive Dysfunction 01/2024 - 06/2007
12	Dystonia (Limb Dystonia) 06/2021 - 03/2008
9	Inflammation (Inflammations) 12/2023 - 03/2012
9	Disease Progression 10/2023 - 01/2012
9	Gaucher Disease (Gaucher's Disease) 08/2022 - 07/2009
8	Down Syndrome (Down's Syndrome) 10/2021 - 04/2004
8	Frontotemporal Lobar Degeneration (Degeneration, Frontotemporal Lobar) 01/2019 - 11/2006
7	Tauopathies 01/2023 - 06/2004
7	Amyotrophic Lateral Sclerosis (Lou Gehrig's Disease) 12/2021 - 06/2008
7	Atrophy 01/2020 - 06/2007
6	Amyloid Plaque 01/2021 - 06/2003
6	Lewy Body Disease (Lewy Body Dementia) 01/2021 - 02/2005
6	Stroke (Strokes) 06/2019 - 01/2002
5	Dyskinesias (Dyskinesia) 08/2023 - 07/2010
5	Genetic Risk Score 01/2023 - 01/2019
5	Ischemic Stroke 07/2015 - 07/2003
4	Tremor (Tremors) 11/2022 - 02/2002
4	Corticobasal Degeneration 12/2014 - 11/2006
3	Multiple System Atrophy 01/2021 - 08/2011
3	Epilepsy (Aura) 01/2019 - 10/2018
3	Spinocerebellar Ataxias (Spinocerebellar Ataxia) 01/2018 - 04/2003
3	Vascular Diseases (Vascular Disease) 01/2018 - 10/2016
3	Multiple Sclerosis 01/2018 - 03/2014
3	Neoplasms (Cancer) 06/2017 - 12/2010
3	Neurodegeneration with brain iron accumulation (NBIA) 03/2016 - 04/2012
3	Neuroaxonal Dystrophies (Neuroaxonal Dystrophy, Late Infantile) 07/2015 - 01/2009
3	Progressive Supranuclear Palsy (Steele Richardson Olszewski Syndrome) 12/2014 - 09/2012
3	Ataxia (Dyssynergia) 07/2014 - 09/2002
3	Mitochondrial Diseases (Mitochondrial Disease) 08/2013 - 05/2009
3	Neuroblastoma 01/2004 - 05/2003
2	Edema (Dropsy) 02/2024 - 01/2023
2	Prion Diseases (Transmissible Spongiform Encephalopathies) 10/2020 - 08/2015
2	Cerebral Amyloid Angiopathy (Congophilic Angiopathy) 10/2020 - 01/2011
2	Trisomy (Trisomies) 01/2019 - 01/2016
2	Crohn Disease (Crohn's Disease) 01/2017 - 10/2016
2	Rheumatoid Arthritis 01/2017 - 03/2012

Drug/Important Bio-Agent (IBA)

61	Proteins (Proteins, Gene)FDA Link 01/2024 - 06/2002
52	Amyloid (Amyloid Fibrils)IBA 02/2024 - 07/2002
36	Apolipoproteins E (ApoE)IBA 01/2023 - 04/2002
22	Biomarkers (Surrogate Marker)IBA 02/2024 - 07/2003
19	Levodopa (L Dopa)FDA LinkGeneric 08/2023 - 09/2002
18	ApolipoproteinsIBA 01/2021 - 05/2002
16	Glucosylceramidase (Glucocerebrosidase)IBA 06/2021 - 03/2009
13	IronIBA 02/2024 - 01/2004
13	Phosphotransferases (Kinase)IBA 12/2023 - 12/2004
13	Peptides (Polypeptides)IBA 06/2023 - 04/2004
13	Microtubule-Associated Proteins (Microtubule-Associated Protein 2)IBA 03/2023 - 02/2004
12	SynucleinsIBA 01/2021 - 04/2004
11	Leucine (L-Leucine)FDA Link 12/2023 - 07/2004
11	Presenilin-1IBA 01/2023 - 03/2002
10	Amyloid beta-PeptidesIBA 01/2021 - 04/2002
10	ProgranulinsIBA 01/2019 - 09/2006
10	DNA-Binding Proteins (DNA Binding Protein)IBA 01/2018 - 06/2008
10	alpha-SynucleinIBA 10/2014 - 05/2003
8	RNA (Ribonucleic Acid)IBA 11/2023 - 05/2014
8	EnzymesIBA 08/2022 - 04/2007
7	Amyloid Precursor Protein Secretases (beta-Secretase)IBA 12/2021 - 03/2002
6	LipidsIBA 10/2023 - 04/2013
6	Apolipoprotein E4IBA 11/2022 - 05/2002
6	CholesterolIBA 01/2019 - 03/2004
6	UbiquitinIBA 01/2019 - 04/2004
6	Dopamine (Intropin)FDA LinkGeneric 10/2014 - 02/2002
5	Flavin-Adenine Dinucleotide (FAD)IBA 12/2021 - 02/2012
5	Proteasome Endopeptidase Complex (Proteasome)IBA 01/2019 - 12/2002
5	PresenilinsIBA 01/2017 - 06/2003
4	Blood Proteins (Serum Proteins)IBA 02/2024 - 08/2005
4	Codon (Codons)IBA 06/2023 - 07/2004
4	Amino Acids FDA Link 06/2023 - 07/2004
4	DNA (Deoxyribonucleic Acid)IBA 01/2019 - 01/2002
4	Glucose (Dextrose)FDA LinkGeneric 11/2016 - 01/2004
4	PrionsIBA 08/2015 - 04/2004
3	CytokinesIBA 01/2023 - 01/2018
3	aducanumabIBA 01/2023 - 01/2016
3	Ligases (Synthetase)IBA 12/2021 - 04/2004
3	Glutamic Acid (Glutamate)FDA Link 01/2021 - 04/2013
3	Messenger RNA (mRNA)IBA 01/2019 - 09/2012
3	Carrier Proteins (Binding Protein)IBA 01/2019 - 03/2005
3	tau Proteins (tau Protein)IBA 01/2017 - 09/2010
3	AcidsIBA 01/2017 - 02/2013
3	Nonsense Codon (Nonsense Mutation)IBA 11/2014 - 12/2006
2	lecanemabIBA 02/2024 - 11/2023
2	AntibodiesIBA 02/2024 - 01/2016
2	Leucine-Rich Repeat Serine-Threonine Protein Kinase-2IBA 12/2023 - 09/2023
2	Islet Amyloid PolypeptideIBA 01/2023 - 01/2021
2	Glial Fibrillary Acidic ProteinIBA 01/2023 - 01/2020
2	Glucosylceramides (Glucocerebrosides)IBA 08/2022 - 11/2016
2	tributyl phosphate (TBP)IBA 01/2022 - 01/2018
2	ProteomeIBA 10/2021 - 01/2018
2	Apolipoprotein E2IBA 01/2020 - 10/2002
2	HLA-DRB1 Chains (HLA DRB1)IBA 10/2018 - 01/2018
2	Glycoproteins (Glycoprotein)IBA 07/2017 - 01/2012
2	GlucosidasesIBA 01/2017 - 01/2016

Therapy/Procedure

21	Therapeutics 10/2023 - 07/2002
3	Deep Brain Stimulation 01/2017 - 07/2010