World's Best Scientists 2026 revealed!

D-Index & Metrics

Genetics

D-Index
90
Citations
24022
World Ranking
1080
National Ranking
519

Research.com Recognitions

  • 2020 - Fellow, National Academy of Inventors

Overview

Edward H. Schuchman is affiliated with the Icahn School of Medicine at Mount Sinai in the United States. Their research focuses primarily on various aspects of medicine and biochemistry, genetics, and molecular biology, with a total of 48 publications in medicine and 30 in biochemistry, genetics, and molecular biology.

The scientist's work spans several subfields of study, including physiology with 22 publications, molecular biology with 18, pulmonary and respiratory medicine with 7, cell biology with 5, and genetics with 4 publications. Their research covers multiple main topics such as lysosomal storage disorders research, which includes 30 publications, sphingolipid metabolism and signaling with 24, cellular transport and secretion with 8, autoimmune and inflammatory disorders research and neuroinflammation and neurodegeneration mechanisms each with 6, erythrocyte function and pathophysiology also with 6, and lipid membrane structure and behavior with another 6 publications.

Edward H. Schuchman has published extensively in several scientific venues. The most frequent places of publication include:

  • Molecular Genetics and Metabolism
  • Nature Communications
  • Orphanet Journal of Rare Diseases
  • Neurobiology of Disease
  • Molecular Metabolism

In collaboration, this researcher has worked frequently with a number of coauthors including María Dolores Ledesma (8 publications), Calogera M. Simonaro (7 publications), Min Hee Park (4 publications), Im-Sook Song (4 publications), and Min-Koo Choi (4 publications).

Recent papers by Edward H. Schuchman include:

  • Consensus clinical management guidelines for acid sphingomyelinase deficiency (Niemann-Pick disease types A, B and A/B), 2023, Orphanet Journal of Rare Diseases
  • N-AS-triggered SPMs are direct regulators of microglia in a model of Alzheimer's disease, 2020, Nature Communications
  • Ceramides are necessary and sufficient for diet-induced impairment of thermogenic adipocytes, 2020, Molecular Metabolism
  • Recombinant Acid Ceramidase Reduces Inflammation and Infection in Cystic Fibrosis, 2020, American Journal of Respiratory and Critical Care Medicine
  • Discovery of a dual-action small molecule that improves neuropathological features of Alzheimer's disease mice, 2022, Proceedings of the National Academy of Sciences

Edward H. Schuchman received recognition as a Fellow of the National Academy of Inventors in 2020.

Best Publications

  • Acid Sphingomyelinase–Deficient Human Lymphoblasts and Mice Are Defective in Radiation-Induced Apoptosis

    Pino Santana;Louis A Peña;Adriana Haimovitz-Friedman;Seamus Martin

  • Niemann-Pick disease type C1 is a sphingosine storage disease that causes deregulation of lysosomal calcium

    Emyr Lloyd-Evans;Anthony J Morgan;Xingxuan He;David A Smith

  • Oocyte apoptosis is suppressed by disruption of the acid sphingomyelinase gene or by sphingosine-1-phosphate therapy.

    Yutaka Morita;Gloria I. Perez;Francois Paris;Silvia R. Miranda

  • Acid sphingomyelinase activity triggers microparticle release from glial cells.

    Fabio Bianco;Cristiana Perrotta;Luisa Novellino;Maura Francolini

  • Control of endothelial targeting and intracellular delivery of therapeutic enzymes by modulating the size and shape of ICAM-1-targeted carriers.

    Silvia Muro;Carmen Garnacho;Julie A Champion;John Leferovich

  • Neurofibromatosis type 2

    Ashok R Asthagiri;Dilys M Parry;John A Butman;H Jeffrey Kim

  • Acid sphingomyelinase deficient mice: a model of types A and B Niemann-Pick disease.

    Kenichi Horinouchi;Shai Erlich;Daniel P. Perl;Klaus Ferlinz

  • Deregulation of sphingolipid metabolism in Alzheimer's disease

    Xingxuan He;Yu Huang;Bin Li;Cheng-Xing Gong

  • Lipopolysaccharide Induces Disseminated Endothelial Apoptosis Requiring Ceramide Generation

    Adriana Haimovitz-Friedman;Carlos Cordon-Cardo;Shariff Bayoumy;Mark Garzotto

  • Enzyme replacement and enhancement therapies: lessons from lysosomal disorders

    Robert J. Desnick;Edward H. Schuchman

  • Intracerebral Transplantation of Bone Marrow‐Derived Mesenchymal Stem Cells Reduces Amyloid‐Beta Deposition and Rescues Memory Deficits in Alzheimer's Disease Mice by Modulation of Immune Responses

    Jong Kil Lee;Hee Kyung Jin;Shogo Endo;Edward H. Schuchman

  • Exocytosis of acid sphingomyelinase by wounded cells promotes endocytosis and plasma membrane repair.

    Christina Tam;Christina Tam;Vincent Idone;Cecilia Devlin;Maria Cecília D.C. Fernandes

  • Molecular Cloning and Characterization of a Full-length Complementary DNA Encoding Human Acid Ceramidase IDENTIFICATION OF THE FIRST MOLECULAR LESION CAUSING FARBER DISEASE

    Jürgen Koch;Sabine Gärtner;Chi-Ming Li;Lothar E. Quintern

  • Zn2+-stimulated Sphingomyelinase Is Secreted by Many Cell Types and Is a Product of the Acid Sphingomyelinase Gene

    Scott L. Schissel;Edward H. Schuchman;Kevin Jon Williams;Ira Tabas

  • Enzyme replacement therapy for lysosomal diseases: lessons from 20 years of experience and remaining challenges.

    R. J. Desnick;E. H. Schuchman

  • The pathogenesis and treatment of acid sphingomyelinase-deficient Niemann-Pick disease.

    Schuchman Eh

  • Human acid sphingomyelinase. Isolation, nucleotide sequence and expression of the full-length and alternatively spliced cDNAs.

    E.H. Schuchman;M. Suchi;T. Takahashi;K. Sandhoff

  • Purification, characterization, and biosynthesis of human acid ceramidase.

    Katussevani Bernardo;Robert Hurwitz;Thomas Zenk;Robert J. Desnick

  • Chapter 53 – Lysosomal Storage Diseases: Perspectives and Principles

    Edward H. Schuchman;Melissa P. Wasserstein

  • Acid sphingomyelinase activity triggers microparticle release from glial cells This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits distribution,andreproductioninanymedium,providedtheoriginalauthorandsourcearecredited.Thislicensedoesnot permit commercial exploitation or the creation of derivative works without specific permission.

    Fabio Bianco;Cristiana Perrotta;Luisa Novellino;Maura Francolini

Frequent Co-Authors

Robert J. Desnick
Robert J. Desnick Icahn School of Medicine at Mount Sinai
Erich Gulbins
Erich Gulbins University of Duisburg-Essen
Shimon Gatt
Shimon Gatt Hebrew University of Jerusalem
Konrad Sandhoff
Konrad Sandhoff University of Bonn
Seng H. Cheng
Seng H. Cheng Pfizer (United States)
Ira Tabas
Ira Tabas Columbia University
Zvi Fuks
Zvi Fuks Memorial Sloan Kettering Cancer Center
Jeffrey A. Medin
Jeffrey A. Medin Medical College of Wisconsin
Anthony H. Futerman
Anthony H. Futerman Weizmann Institute of Science
Richard Kolesnick
Richard Kolesnick Memorial Sloan Kettering Cancer Center

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