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Showing 1–50 of 102 results

Advanced filters: Author: S G Younkin Clear advanced filters

Tau protein directly interacts with the amyloid β-protein precursor: Implications for Alzheimer's disease

M.A. Smith
S.L. Siedlak
G. Perry
Research01 Apr 1995
Nature Medicine

Volume: 1, P: 365-369
Alzheimer's Aβ(1–42) is generated in the endoplasmic reticulum/intermediate compartment of NT2N cells

David G. Cook
Mark S. Forman
Robert W. Doms
Research01 Sept 1997
Nature Medicine

Volume: 3, P: 1021-1023
The Swedish mutation causes early-onset Alzheimer's disease by β-secretase cleavage within the secretory pathway

Christian Haass
Cynthia A. Lemere
Dennis J. Selkoe
Research01 Dec 1995
Nature Medicine

Volume: 1, P: 1291-1296
A pathogenic mutation for probable Alzheimer's disease in the APP gene at the N–terminus of β–amyloid

Mike Mullan
Fiona Crawford
Lars Lannfelt
Research01 Aug 1992
Nature Genetics

Volume: 1, P: 345-347
Genetic variation in PCDH11X is associated with susceptibility to late-onset Alzheimer's disease

Steve Younkin and colleagues report the results of a genome-wide association study for late-onset Alzheimer's disease. A variant on the X chromosome in PCDH11X is associated with increased risk of the disorder. PCDH11X encodes a protocadherin and is a member of a cell surface receptor molecule family.

Minerva M Carrasquillo
Fanggeng Zou
Steven G Younkin
Research11 Jan 2009
Nature Genetics

Volume: 41, P: 192-198
Impaired learning and LTP in mice expressing the carboxy terminus of the Alzheimer amyloid precursor protein

J. Nalbantoglu
G. Tirado-Santiago
M. L. Shapiro
Research29 May 1997
Nature

Volume: 387, P: 500-505
Isolation and characterization of APLP2 encoding a homologue of the Alzheimer's associated amyloid β protein precursor

Wilma Wasco
Sarada Gurubhagavatula
Rudolph E. Tanzi
Research01 Sept 1993
Nature Genetics

Volume: 5, P: 95-100
Energetic pursuit of leptin function

Jeffrey S. Flier
Joel K. Elmquist
Research01 Jan 1997
Nature Biotechnology

Volume: 15, P: 20-21
Partial denervation in inactive muscle affects innervated and denervated fibres equally

A. Cangiano
L. Lutzemberger
Research22 May 1980
Nature

Volume: 285, P: 233-235
Secreted amyloid β–protein similar to that in the senile plaques of Alzheimer's disease is increased in vivo by the presenilin 1 and 2 and APP mutations linked to familial Alzheimer's disease

D. Scheuner
C. Eckman
S. Younkin
Research01 Aug 1996
Nature Medicine

Volume: 2, P: 864-870
Decreased α-secretase-cleaved amyloid precursor protein as a diagnostic marker for Alzheimer's diseas

Lars Lannfelt
Hans Basun
Steven L. Wagner
Research01 Aug 1995
Nature Medicine

Volume: 1, P: 829-832
Introduction and expression of the 400 kilobase precursor amyloid protein gene in transgenic mice

Bruce T. Lamb
Sangram S. Sisodia
John D. Gearhart
Research01 Sept 1993
Nature Genetics

Volume: 5, P: 22-30
Aequorin luminescence during activation of single isolated smooth muscle cells

F. S. FAY
H. H. SHLEVIN
S. R. TAYLOR
Research01 Aug 1979
Nature

Volume: 280, P: 506-508
Amyloid β-peptide is produced by cultured cells during normal metabolism

Christian Haass
Michael G. Schlossmacher
Dennis J. Selkoe
Research24 Sept 1992
Nature

Volume: 359, P: 322-325
Accelerated Alzheimer-type phenotype in transgenic mice carrying both mutant amyloid precursor protein and presenilin 1 transgenes

Leigh Holcomb
Marcia N. Gordon
Karen Duff
Research01 Jan 1998
Nature Medicine

Volume: 4, P: 97-100
Molecular and cell biological aspects of Alzheimer disease

B. S. Shastry
Reviews01 Nov 2001
Journal of Human Genetics

Volume: 46, P: 609-618
Increased amyloid-β42(43) in brains of mice expressing mutant presenilin 1

Karen Duff
Chris Eckman
Steven Younkin
Research24 Oct 1996
Nature

Volume: 383, P: 710-713
³¹P Nuclear Magnetic Resonance Study of the Effect of Hypoxemia on Neonatal Status Epilepticus

Richard S K Young
Richard W Briggs
Ida Gorman
Research01 Jul 1986
Pediatric Research

Volume: 20, P: 581-586
SOD1 rescues cerebral endothelial dysfunction in mice overexpressing amyloid precursor protein

Costantino Iadecola
Fangyi Zhang
George A. Carlson
Research01 Feb 1999
Nature Neuroscience

Volume: 2, P: 157-161
In search of the soluble

John Hardy
Mike Mullan
News & Views24 Sept 1992
Nature

Volume: 359, P: 268-269
Framing β–amyloid

John Hardy
News & Views01 Jul 1992
Nature Genetics

Volume: 1, P: 233-234
Genome-wide association study of corticobasal degeneration identifies risk variants shared with progressive supranuclear palsy

Corticobasal degeneration is a rare neurodegenerative disorder that can only be definitively diagnosed by autopsy. Here, Kouri et al. conduct a genome-wide-association study and identify two genetic susceptibility loci 17q21 (MAPT) and 3p12 (MOBP), and a novel susceptibility locus at 8p12.

Naomi Kouri
Owen A. Ross
Dennis W. Dickson
ResearchOpen Access16 Jun 2015
Nature Communications

Volume: 6, P: 1-7
Structural model for the β-amyloid fibril based on interstrand alignment of an antiparallel-sheet comprising a C-terminal peptide

Peter T. Lansbury Jr.
Philip R. Costa
Robert G. Griffin
Research01 Nov 1995
Nature Structural Biology

Volume: 2, P: 990-998
Prognosis of Newborn Infants with Hypoxic-Ischemic Brain Injury Assessed by Phosphorus Magnetic Resonance Spectroscopy

D Azzopardi
J S Wyatt
E O R Reynolds
Research01 May 1989
Pediatric Research

Volume: 25, P: 445-451
The E280A presenilin 1 Alzheimer mutation produces increased Aβ42 deposition and severe cerebellar pathology

Cynthia A. Lemere
Francisco Lopera
Juan Carlos Arango V.
Research01 Oct 1996
Nature Medicine

Volume: 2, P: 1146-1150
An integrative systems-biology approach defines mechanisms of Alzheimer’s disease neurodegeneration

In this study, Leventhal et al. integrate multi-omic data from human and Drosophila models of Alzheimer’s disease to define regulators of age-associated neurodegeneration in Alzheimer’s disease and the pathways through which they act.

Matthew J. Leventhal
Camila A. Zanella
Ernest Fraenkel
ResearchOpen Access20 May 2025
Nature Communications

Volume: 16, P: 1-21
Hippocampal synaptic transmission enhanced by low concentrations of nicotine

Richard Gray
Arun S. Rajan
John A. Dani
Research24 Oct 1996
Nature

Volume: 383, P: 713-716
Genetic meta-analysis of diagnosed Alzheimer’s disease identifies new risk loci and implicates Aβ, tau, immunity and lipid processing

Large genome-wide meta-analysis of clinically diagnosed late-onset Alzheimer’s disease (LOAD) from 94,437 individuals identifies new LOAD risk loci and implicates Aβ formation, tau protein binding, immune response and lipid metabolism.

Brian W. Kunkle
Benjamin Grenier-Boley
Margaret A. Pericak-Vance
Research28 Feb 2019
Nature Genetics

Volume: 51, P: 414-430
Alzheimer's disease: early alterations in brain DNA methylation at ANK1, BIN1, RHBDF2 and other loci

Aging can lead to cognitive decline associated with neural pathology and Alzheimer's disease (AD). Here the authors scan the methylation status of CpGs across the entire genome of brain samples from aged subjects in an epigenome-wide association study (EWAS). Several loci, including ANK1, were associated with AD pathology, gene expression and AD genetic risk networks.

Philip L De Jager
Gyan Srivastava
David A Bennett
Research17 Aug 2014
Nature Neuroscience

Volume: 17, P: 1156-1163
Individual bioenergetic capacity as a potential source of resilience to Alzheimer’s disease

Bioenergetic capacity, the ability to maintain energy balance under stress, can be monitored using blood acylcarnitine profiles. Improving this capacity may slow Alzheimer’s disease progression.

Matthias Arnold
Mustafa Buyukozkan
Jan Krumsiek
ResearchOpen Access24 Feb 2025
Nature Communications

Volume: 16, P: 1-15
Effect of Thymic Humoral Factor on Cellular Immune Functions of Normal Children and of Pediatric Patients with Ataxia Telangiectasia and Down's Syndrome

Z T Handzel
Z Dolfin
N Gadot
Research01 Jul 1979
Pediatric Research

Volume: 13, P: 803-806
GWAS of multiple neuropathology endophenotypes identifies new risk loci and provides insights into the genetic risk of dementia

Genome-wide analyses identify common variants associated with 11 distinct neuropathology endophenotypes, providing insights into the mechanisms underlying the genetic risk of Alzheimer’s disease and related dementias.

Lincoln M. P. Shade
Yuriko Katsumata
David W. Fardo
ResearchOpen Access08 Oct 2024
Nature Genetics

Volume: 56, P: 2407-2421
STUDIES OF OXIDATIVE METABOLITES USING 31-P NMR SPECTROSCOPY IN NEWBORN NEUROLOGIC DISORDERS

Donald P Younkin
Maria Delivoria-Papadopoulos
Britton Chance
Research01 Apr 1984
Pediatric Research

Volume: 18, P: 385
New insights into the genetic etiology of Alzheimer’s disease and related dementias

Meta-analysis of genome-wide association studies on Alzheimer’s disease and related dementias identifies new loci and enables generation of a new genetic risk score associated with the risk of future Alzheimer’s disease and dementia.

Céline Bellenguez
Fahri Küçükali
Jean-Charles Lambert
ResearchOpen Access04 Apr 2022
Nature Genetics

Volume: 54, P: 412-436
Exceptionally low likelihood of Alzheimer’s dementia in APOE2 homozygotes from a 5,000-person neuropathological study

APOE is the major genetic risk factor for Alzheimer’s disease. In a large number of neuropathologically confirmed cases and controls, the impact of different APOE genotypes on Alzheimer’s dementia risk was greater than previously thought and APOE2 homozygotes had an exceptionally low risk.

Eric M. Reiman
Joseph F. Arboleda-Velasquez
Yi Zhao
ResearchOpen Access03 Feb 2020
Nature Communications

Volume: 11, P: 1-11
The neuronal sortilin-related receptor SORL1 is genetically associated with Alzheimer disease

Ekaterina Rogaeva
Yan Meng
Peter St George-Hyslop
Research14 Jan 2007
Nature Genetics

Volume: 39, P: 168-177
Brain Energy State and Lactate Metabolism during Status Epilepticus in the Neonatal Dog: In Vivo ³¹P and ¹H Nuclear Magnetic Resonance Study

Richard S K Young
Ognen A C Petroff
William J Aquila
Research01 Feb 1991
Pediatric Research

Volume: 29, P: 191-195
Phosphorus Metabolites and Intracellular pH in the Brains of Normal and Small for Gestational Age Infants Investigated by Magnetic Resonance Spectroscopy

D Azzopardi
J S Wyatt
E O R Reynolds
Research01 May 1989
Pediatric Research

Volume: 25, P: 440-444
Tau is required for glial lipid droplet formation and resistance to neuronal oxidative stress

Goodman et al. found that Tau is critical for ROS-induced lipid droplet formation in glia from flies and mammals. Too much or too little glial Tau disrupts lipid droplets, leaving the glia susceptible to neuronal ROS-induced damage and causing phenotypes in tau^−/− flies.

Lindsey D. Goodman
Isha Ralhan
Hugo J. Bellen
Research26 Aug 2024
Nature Neuroscience

Volume: 27, P: 1918-1933
Transient Increase in Postnatal Testicular Activity Is Not Revealed by Longitudinal Measurements of Salivary Testosterone

Ilpo Huhtaniemi
Leo Dunkel
Jaakko Perheentupa
Research01 Dec 1986
Pediatric Research

Volume: 20, P: 1324-1327
CYP1B1-RMDN2 Alzheimer’s disease endophenotype locus identified for cerebral tau PET

A multi-cohort genome-wide association study of tau PET, a brain imaging-based marker of Alzheimer’s disease, identifies a CYP1B1-RMDN2 locus as associated with higher tau and faster cognitive decline. These results suggest a new genetic contribution to cerebral tau and target for Alzheimer’s disease research.

Kwangsik Nho
Shannon L. Risacher
Andrew J. Saykin
ResearchOpen Access20 Sept 2024
Nature Communications

Volume: 15, P: 1-14
The 'Arctic' APP mutation (E693G) causes Alzheimer's disease by enhanced Aβ protofibril formation

Camilla Nilsberth
Anita Westlind-Danielsson
Lars Lannfelt
Research20 Aug 2001
Nature Neuroscience

Volume: 4, P: 887-893
Erratum: Genome-wide association study identifies variants at CLU and PICALM associated with Alzheimer's disease

Denise Harold
Richard Abraham
Julie Williams
Amendments and Corrections01 Oct 2009
Nature Genetics

Volume: 41, P: 1156
1683 SERUM CARNITIE IN REYE'S SYNDROME(RS): SEQUENTIAL ANALYSES DURING ACUTE AND RECOVERY PHASES AND CORRELATION WITH OUTCOME

Lester L Lansky
George Hug
Mary H Ryan
Research01 Apr 1985
Pediatric Research

Volume: 19, P: 391
1559 THE ROLES OF PATENT FORAMEN OVALE SHUNT AND PATENT DUCTUS ARTERIOSUS SHUNT IN THE PATHOGENESIS OP RDS

T J Wei
H O Tien
S Sun
Research01 Apr 1985
Pediatric Research

Volume: 19, P: 370
EFFECT OF THEOPHYLLINE ON VENTILATORY RESPONSES OF GROWING PRETERM NEONATES TO COMBINED INSPIRATORY AND EXPIRATORY LOADS

S Abbasi
E Sivieri
W W Fox
Research01 Apr 1984
Pediatric Research

Volume: 18, P: 385
A NOVEL DIABETES SYNDROME IN AMERICAN BLACKS (TYPE 1.5 DIABETES): INSULIN SECRETORY AND BINDING STUDIES

W E Winter
N K MaClaren
R Spillar
Research01 Apr 1984
Pediatric Research

Volume: 18, P: 303
1722 THE COMPARATIVE EFFECTS OF THEOPHYLLINE AND CAFFEINE THERAPY ON VENTILATORY RESPONSES OF GROWING PRETERM NEONATES TO COMBINED INSPIRATORY AND EXPIRATORY LOADS

S Abbasi
E M Sivieri
W W Fox
Research01 Apr 1985
Pediatric Research

Volume: 19, P: 397
1682 COGNITIVE DEFICITS INDPENDENT OF BEHAVIORAL DIFFICULTIES IN CHILDREN WITH EPILEPSY AND ATTENTION DEFICIT DISORDER (ADD)

Robert Q Kinney
Bennett A Shaywitz
Sally E Shaywitz
Research01 Apr 1985
Pediatric Research

Volume: 19, P: 391
1686 SPINAL CORD COMPRESSION (SCC) IN CHILDREN WITH SYSTEMIC CANCER

D W Lewis
R J Packer
J Belasco
Research01 Apr 1985
Pediatric Research

Volume: 19, P: 391

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