Nature Search

Acid sphingomyelinase deficient mice: a model of types A and B Niemann–Pick disease

Kenichi Horinouchi
Shai Erlich
Edward H. Schuchman
Research01 Jul 1995
Nature Genetics

Volume: 10, P: 288-293
New Tools for the Study of Niemann-Pick Disease: Analogues of Natural Substrate and Epstein-Barr Virus-transformed Lymphoid Cell Lines

Thierry Levade
Robert Salvayre
Louis Douste-Blazy
Research01 Jan 1985
Pediatric Research

Volume: 19, P: 153-157
Genotype-Phenotype Correlations in Type B Niemann-Pick Disease • 725

Margaret M McGovern
Sylvia Wozniak
Edward H Schuchman
Research01 Apr 1998
Pediatric Research

Volume: 43, P: 126
Morbidity and mortality in type B Niemann–Pick disease

Margaret M. McGovern
Natalie Lippa
Melissa P. Wasserstein
Research14 Feb 2013
Genetics in Medicine

Volume: 15, P: 618-623
Use of complementary and alternative medicine by patients with lysosomal storage diseases

Manisha Balwani
Laura Fuerstman
Margaret M McGovern
Research10 Sept 2009
Genetics in Medicine

Volume: 11, P: 722-727
Immunological Relationship between Streptococcus A Polysaccharide and the Structural Glycoproteins of Heart Valve

I. GOLDSTEIN
B. HALPERN
L. ROBERT
Research07 Jan 1967
Nature

Volume: 213, P: 44-47
Late endosomal membranes rich in lysobisphosphatidic acid regulate cholesterol transport

Toshihide Kobayashi
Marie-Hélène Beuchat
Jean Gruenberg
Research15 May 1999
Nature Cell Biology

Volume: 1, P: 113-118
Treatment of Experimental Group B Streptococcal Infection with Hybridoma Antibody

Robert D Christensen
Gerald Rothstein
Seth H Pincus
Research01 Nov 1984
Pediatric Research

Volume: 18, P: 1093-1096
Correction: Enzyme replacement and enhancement therapies: lessons from lysosomal disorders

Robert J. Desnick
Edward H. Schuchman
Amendments and Corrections01 Feb 2003
Nature Reviews Genetics

Volume: 4, P: 157
PULMONARY May 17, 1973, 2:00 P.M. Continental Ballroom 6

Robert B Mellins
Research01 Apr 1973
Pediatric Research

Volume: 7, P: 59-168
Global analysis of translocon remodeling during protein synthesis at the ER

The authors use selective ribosome profiling to define how and when factors for N-glycosylation and membrane insertion engage and disengage from the core Sec61 translocation channel during biogenesis of secretory and membrane proteins at the endoplasmic reticulum.

Arunkumar Sundaram
Qianru Li
Robert J. Keenan
ResearchOpen Access20 Oct 2025
Nature Structural & Molecular Biology

Volume: 32, P: 2517-2525
GabiPD: The GABI Primary Database - a plant integrative ‘omics’ database

Diego Mauricio Riaño-Pachón
Axel Nagel
Birgit Kersten
ResearchOpen Access22 Aug 2008
Nature Precedings

P: 1
The New York pilot newborn screening program for lysosomal storage diseases: Report of the First 65,000 Infants

Melissa P. Wasserstein
Michele Caggana
Joseph J. Orsini
Research10 Aug 2018
Genetics in Medicine

Volume: 21, P: 631-640
The DNA sequence and analysis of human chromosome 14

Roland Heilig
Ralph Eckenberg
Jean Weissenbach
Research01 Jan 2003
Nature

Volume: 421, P: 601-607
Enzyme Therapy. V. In Vivo Fate of Erythrocyte-entrapped β-Glucuronidase in β-Glucuronidase-deficient mice

Suzanne R Thorpe
Morris B Fiddler
Robert J Desnick
Research01 Dec 1975
Pediatric Research

Volume: 9, P: 918-923
Enzyme replacement and enhancement therapies: lessons from lysosomal disorders

Robert J. Desnick
Edward H. Schuchman
Reviews01 Dec 2002
Nature Reviews Genetics

Volume: 3, P: 954-966
Role of morphogenetic factors in metastasis of mammary carcinoma cells

Silke Meiners
Volker Brinkmann
Walter Birchmeier
Research21 Jan 1998
Oncogene

Volume: 16, P: 9-20
Structure of the Synthetic Polypeptide Poly-γ-methyl-L-glutamate

HARRY L. YAKEL JUN.
LINUS PAULING
ROBERT B. COREY
Research31 May 1952
Nature

Volume: 169, P: 920
Functionally overlapping intra- and extralysosomal pathways promote bis(monoacylglycero)phosphate synthesis in mammalian cells

Bis(monoacylglycero)phosphate (BMP) is an important component of late endosomal and lysosomal membranes. In this study, the authors show that both intra- and extralysosomal pathways can contribute to BMP synthesis.

Dominik Bulfon
Johannes Breithofer
Robert Zimmermann
ResearchOpen Access16 Nov 2024
Nature Communications

Volume: 15, P: 1-17
Lucilia cuprina genome unlocks parasitic fly biology to underpin future interventions

Lucilia cuprina is a parasitic blowfly of major economic importance worldwide that feeds on the tissues of animals such as sheep. Here, the authors sequence the genome of L. cuprinaand provide insights into the fly’s molecular biology, interactions with the host animal and insecticide resistance.

Clare A. Anstead
Pasi K. Korhonen
Robin B. Gasser
ResearchOpen Access25 Jun 2015
Nature Communications

Volume: 6, P: 1-11
Rheology of Fetal and Maternal Blood

Walter H Reinhart
Stuart J Danoff
Shu Chien
Research01 Jan 1985
Pediatric Research

Volume: 19, P: 147-153
Unusual β-sheet periodicity in small cyclic peptides

Alan C. Gibbs
Leslie H. Kondejewski
David S. Wishart
Research01 Apr 1998
Nature Structural Biology

Volume: 5, P: 284-288
Discovery and systematic characterization of risk variants and genes for coronary artery disease in over a million participants

Genome-wide association analyses, functionally informed fine-mapping and complementary gene prioritization approaches identify new risk loci and candidate effector genes for CAD.

Krishna G. Aragam
Tao Jiang
Moritz von Scheidt
ResearchOpen Access06 Dec 2022
Nature Genetics

Volume: 54, P: 1803-1815
Localization of cystic fibrosis locus to human chromosome 7cen–q22

Brandon J. Wainwright
Peter J. Scambler
Robert Williamson
Research28 Nov 1985
Nature

Volume: 318, P: 384-385
Dominant-negative caveolin inhibits H-Ras function by disrupting cholesterol-rich plasma membrane domains

Sandrine Roy
Robert Luetterforst
Robert G. Parton
Research15 May 1999
Nature Cell Biology

Volume: 1, P: 98-105
Ethnic-specific associations of rare and low-frequency DNA sequence variants with asthma

Common variants account for only a small amount of the heritable risk for developing asthma. Using a meta-analysis approach, Igartua et al. identify one low-frequency missense mutation and two genes with functional variants that are associated with asthma, but only in specific ethnic groups.

Catherine Igartua
Rachel A. Myers
Carole Ober
ResearchOpen Access16 Jan 2015
Nature Communications

Volume: 6, P: 1-8
An epithelial cell-derived metabolite tunes immunoglobulin A secretion by gut-resident plasma cells

Reboldi and colleagues show that high-cholesterol diets influence IgA secretion. Cholesterol-derived metabolites act on plasma cell GPR183 receptors to alter cell positioning of IgA⁺ plasma cells within the lamina propria and suppress antibody responses to intestinal pathogens.

Simona Ceglia
Alyssa Berthelette
Andrea Reboldi
Research19 Jan 2023
Nature Immunology

Volume: 24, P: 531-544
Small molecule SWELL1 complex induction improves glycemic control and nonalcoholic fatty liver disease in murine Type 2 diabetes

Type 2 diabetes is associated with insulin resistance, impaired insulin secretion and liver steatosis. Here the authors report a proof-of-concept study for small molecule SWELL1 modulators as a therapeutic approach to treat diabetes and associated liver steatosis by enhancing systemic insulin-sensitivity and insulin secretion in mice.

Susheel K. Gunasekar
Litao Xie
Rajan Sah
ResearchOpen Access10 Feb 2022
Nature Communications

Volume: 13, P: 1-25
Lysosomal phospholipase A2 contributes to the biosynthesis of the atypical late endosome lipid bis(monoacylglycero)phosphate

Lysosomal phospholipase A2 (LPLA2) is the PG to LPG converting enzyme in the BMP biosynthetic pathway, and changes in LPLA2 levels in cells affect cholesterol levels and late endosome/lysosome morphology.

Jacinda Chen
Amaury Cazenave-Gassiot
Catherine Marquer
ResearchOpen Access23 Feb 2023
Communications Biology

Volume: 6, P: 1-11
Whole-genome sequence variation, population structure and demographic history of the Dutch population

Paul de Bakker, Cisca Wijmenga and colleagues report on The Genome of the Netherlands Project, including whole-genome sequencing of 769 individuals of Dutch ancestry from 250 parent-offspring families and construction of a phased haplotype map. Their intermediate-coverage population sequencing data set provides a complementary resource to other publicly available data sets, including the 1000 Genomes Project.

Laurent C Francioli
Androniki Menelaou
Cisca Wijmenga
Research29 Jun 2014
Nature Genetics

Volume: 46, P: 818-825
Activation of invasion by oncogenic reprogramming of cholesterol metabolism via increased NPC1 expression and macropinocytosis

Aikaterini Skorda
Anna Røssberg Lauridsen
Tuula Kallunki
ResearchOpen Access07 Jul 2023
Oncogene

Volume: 42, P: 2495-2506
Sonographic diagnosis of heterotopic bone formation in spinal injury patients

V N Cassar-Pullicino
M McClelland
W El Masry
Research01 Jan 1993
Spinal Cord

Volume: 31, P: 40-50
Erythrocyte receptors for Mycoplasma pneumoniae are sialylated oligosaccharides of Ii antigen type

Lesley M. Loomes
Kei-ichi Uemura
Ten Feizi
Research09 Feb 1984
Nature

Volume: 307, P: 560-563
Abnormal LDL Cholesterol Metabolism in Smith-Lemli-Opitz Fibroblasts † 741

Christopher A Wassif
Maria Tsokos
Forbes D Porter
Research01 Apr 1998
Pediatric Research

Volume: 43, P: 129
Prenatal Genetic Screening in the Ashkenazi Jewish Population: A Pilot Program of Multiple Option Testing for Five Disorders † 712

Christine M Eng
Lei Li
Robert J Desnick
Research01 Apr 1998
Pediatric Research

Volume: 43, P: 124
Cellular and Molecular Studies of Smith-Lemli-Opitz Syndrome

Forbes D Porter
Robert D Steiner
Christopher A Wassif
Research01 Apr 1999
Pediatric Research

Volume: 45, P: 140
Single-molecule imaging and molecular dynamics simulations reveal early activation of the MET receptor in cells

The hepatocyte growth factor receptor MET is a receptor tyrosine kinase involved in cellular processes such as proliferation, migration, and survival. Here the authors combine molecular dynamics simulations and smFRET in cells, to investigate the early stages of MET activation.

Yunqing Li
Serena M. Arghittu
Mike Heilemann
ResearchOpen Access02 Nov 2024
Nature Communications

Volume: 15, P: 1-16
Functional foods and dietary supplements for the management of dyslipidaemia

Lifestyle modification is recommended in all patients with dyslipidaemia to improve their lipid profile and reduce cardiovascular risk. Here, Hunter and Hegele discuss the mechanisms of action, safety and efficacy of a range of functional foods and dietary supplements with lipid-lowering properties.

Paola M. Hunter
Robert A. Hegele
Reviews30 Jan 2017
Nature Reviews Endocrinology

Volume: 13, P: 278-288
Plasma lipoproteins: genetic influences and clinical implications

Recent discoveries of genetic contributors to plasma lipid and lipoprotein levels, which are key risk factors for cardiovascular disease, have shown new avenues for research into basic metabolic pathways and could lead to improvements in disease diagnosis and treatment.

Robert A. Hegele
Reviews01 Feb 2009
Nature Reviews Genetics

Volume: 10, P: 109-121
Senolytics prevent mt-DNA-induced inflammation and promote the survival of aged organs following transplantation

Organ transplantation involving aged donors is often confounded by reduced post-transplantation organ survival. By studying both human organs and mouse transplantation models, here the authors show that pretreating the donors with senolytics to reduce mitochondria DNA and pro-inflammatory dendritic cells may help promote survival of aged organs.

Jasper Iske
Midas Seyda
Stefan G. Tullius
ResearchOpen Access27 Aug 2020
Nature Communications

Volume: 11, P: 1-13
Premarital and prenatal screening for cystic fibrosis: Experience in the Ashkenazi Jewish population

Ruth Kornreich
Josef Ekstein
Robert J Desnick
Research01 Sept 2004
Genetics in Medicine

Volume: 6, P: 415-420
Human macrophages infected with Egyptian Rousette bat-isolated Marburg virus display inter-individual susceptibility and antiviral responsiveness

Ivet A. Yordanova
Angelika Lander
Joseph B. Prescott
ResearchOpen Access02 May 2024
npj Viruses

Volume: 2, P: 1-11
Caveolae — from ultrastructure to molecular mechanisms

Robert G. Parton
Reviews01 Feb 2003
Nature Reviews Molecular Cell Biology

Volume: 4, P: 162-167
Post-exposure treatments for Ebola and Marburg virus infections

Efforts towards developing post-exposure therapies for infections with filoviruses, particularly Ebola and Marburg viruses, increased substantially during the Ebola virus outbreak of 2013–2016. Geisbert and colleagues review the progress made on this front and discuss the challenges and opportunities for developing post-exposure therapies in the future.

Robert W. Cross
Chad E. Mire
Thomas W. Geisbert
Reviews29 Jan 2018
Nature Reviews Drug Discovery

Volume: 17, P: 413-434
Genetic determinants of plasma lipoproteins

In addition to environmental factors, genetic variation exerts a sizeable, complex influence on lipoprotein phenotypes. Rebecca Pollex and Robert Hegele review recent progress on genomic variants and cholesterol metabolism, focusing on key, well-characterized genes that are determinants of plasma lipoproteins and have shown consistent results over the years, and discuss their potential utility in clinical cardiology.

Rebecca L Pollex
Robert A Hegele
Reviews01 Nov 2007
Nature Clinical Practice Cardiovascular Medicine

Volume: 4, P: 600-609
Quantitative measurement of antibiotic resistance in Mycobacterium tuberculosis reveals genetic determinants of resistance and susceptibility in a target gene approach

Molecular diagnostics for tuberculosis have focused on predicting drug susceptibilities in a binary manner (i.e., strains are either susceptible or resistant). Here, CRyPTIC Consortium researchers use whole genome sequencing and a quantitative assay to identify associations between genomic mutations and minimum inhibitory concentrations in over 15,000 Mycobacterium tuberculosis clinical isolates.

Ivan Barilar
Simone Battaglia
Baoli Zhu
ResearchOpen Access12 Jan 2024
Nature Communications

Volume: 15, P: 1-13
GTP cyclohydrolase and tetrahydrobiopterin regulate pain sensitivity and persistence

Irmgard Tegeder
Michael Costigan
Clifford J Woolf
Research22 Oct 2006
Nature Medicine

Volume: 12, P: 1269-1277
Mycobacterium tuberculosis lineage 4 comprises globally distributed and geographically restricted sublineages

Sebastien Gagneux and colleagues analyze a global collection of Mycobacterium tuberculosis clinical isolates to classify sublineages by phylogeography. They find globally distributed ‘generalist’ and geographically restricted ‘specialist’ sublineages of lineage 4, indicating that different evolutionary strategies were adopted to succeed in various ecological niches.

David Stucki
Daniela Brites
Sebastien Gagneux
Research31 Oct 2016
Nature Genetics

Volume: 48, P: 1535-1543
Analysis of the human diseasome using phenotype similarity between common, genetic and infectious diseases

Robert Hoehndorf
Paul N. Schofield
Georgios V. Gkoutos
ResearchOpen Access08 Jun 2015
Scientific Reports

Volume: 5, P: 1-14
Mannosidosis: Clinical, Morphologic, Immunologic, and Biochemical Studies

Robert J Desnick
Harvey L Sharp
Justus U Ikonne
Research01 Dec 1976
Pediatric Research

Volume: 10, P: 985-996

Search

Filter By:

Search

Quick links