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E. Schuchman · SciRah

Researcher profile · Semantic Scholar

E. Schuchman

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E. Schuchman — researcher profile on SciRah

h-index: 77
Works: 357
Citations: 21K

Most-cited papers

Types A and B Niemann-Pick Disease
E. Schuchman, R. Desnick
2016Molecular Genetics and Metabolism230 citations Open access
Semantic Scholar
Types A and B Niemann-Pick Disease.
E. Schuchman, M. Wasserstein
2016Pediatric Endocrinology Reviews: diabetes, nutrition, metabolism106 citations
Semantic Scholar
β1-Integrin Accumulates in Cystic Fibrosis Luminal Airway Epithelial Membranes and Decreases Sphingosine, Promoting Bacterial Infections
H. Grassmé, Brian D. Henry, Regan Ziobro, K. A. Becker +12 more
2017Cell Host and Microbe105 citations Open access
Semantic Scholar
Neuronal SphK1 acetylates COX2 and contributes to pathogenesis in a model of Alzheimer’s Disease
J. Y. Lee, Seung-hoon Han, M. Park, Bosung Baek +9 more
2018Nature Communications104 citations Open access
Semantic Scholar
Consensus recommendation for a diagnostic guideline for acid sphingomyelinase deficiency
M. McGovern, C. Dionisi-Vici, R. Giugliani, P. Hwu +6 more
2017Genetics in Medicine103 citations Open access
Semantic Scholar
Nephronophthisis
S. Froehlich, C. Lackerbauer, G. Rudolph, J. Rémi +76 more
2020Definitions100 citations Open access
Semantic Scholar
Acid ceramidase is upregulated in AML and represents a novel therapeutic target
Su-Fern Tan, Xin Liu, T. Fox, Brian M. Barth +21 more
2016OncoTarget92 citations Open access
Semantic Scholar
Recommendations for clinical monitoring of patients with acid sphingomyelinase deficiency (ASMD)
M. Wasserstein, C. Dionisi-Vici, R. Giugliani, W. Hwu +6 more
2018Molecular Genetics and Metabolism88 citations Open access
Semantic Scholar
Consensus clinical management guidelines for acid sphingomyelinase deficiency (Niemann–Pick disease types A, B and A/B)
T. Geberhiwot, M. Wasserstein, S. Wanninayake, Shaun Bolton +18 more
2023Orphanet Journal of Rare Diseases82 citations Open access
Semantic Scholar
Vascular and Neurogenic Rejuvenation in Aging Mice by Modulation of ASM.
M. Park, J. Y. Lee, Kang Ho Park, In Kyung Jung +15 more
2018Neuron71 citations
Semantic Scholar
N-AS-triggered SPMs are direct regulators of microglia in a model of Alzheimer’s disease
J. Y. Lee, Seung-hoon Han, M. Park, I. Song +8 more
2020Nature Communications47 citations Open access
Semantic Scholar
Control of CD1d-restricted antigen presentation and inflammation by sphingomyelin
E. Melum, Xiao-Jun Jiang, K. Baker, M. F. Macedo +17 more
2019Nature Immunology47 citations Open access
Semantic Scholar
Acid ceramidase and the treatment of ceramide diseases: The expanding role of enzyme replacement therapy.
E. Schuchman
2016Biochimica et Biophysica Acta47 citations Open access
Semantic Scholar
Ceramides are necessary and sufficient for diet-induced impairment of thermogenic adipocytes
Bhagirath Chaurasia, Li Ying, C. Talbot, J. Maschek +5 more
2020Molecular Metabolism45 citations Open access
Semantic Scholar
Adeno-associated viral vector serotype 9-based gene therapy for Niemann-Pick disease type A
L. Samaranch, A. Pérez-Cañamás, Beatriz Soto-Huelin, V. Sudhakar +12 more
2019Science Translational Medicine43 citations Open access
Semantic Scholar
Enzyme replacement therapy for Farber disease: Proof-of-concept studies in cells and mice
Xing-Xuan He, Shaalee Dworski, Changzhi Zhu, Victor A. DeAngelis +4 more
2017BBA Clinical42 citations Open access
Semantic Scholar
Treatment with pentosan polysulphate in patients with MPS I: results from an open label, randomized, monocentric phase II study
J. Hennermann, Seyfullah Gökce, A. Sólyom, E. Mengel +2 more
2016Journal of Inherited Metabolic Disease41 citations
Semantic Scholar
Ceramide and Ischemia/Reperfusion Injury
Xing-Xuan He, E. Schuchman
2018Journal of Lipids40 citations Open access
Semantic Scholar
Quantitative Systems Pharmacology Modeling of Acid Sphingomyelinase Deficiency and the Enzyme Replacement Therapy Olipudase Alfa Is an Innovative Tool for Linking Pathophysiology and Pharmacology
C. Kaddi, Bradley Niesner, R. Baek, P. Jasper +12 more
2018CPT: Pharmacometrics & Systems Pharmacology37 citations Open access
Semantic Scholar
Sphingolipids as targets for inhalation treatment of cystic fibrosis
K. A. Becker, Joachim Riethmüller, A. Seitz, A. Gardner +9 more
2018Advanced Drug Delivery Reviews37 citations Open access
Semantic Scholar
Neuropeptide Y Induces Hematopoietic Stem/Progenitor Cell Mobilization by Regulating Matrix Metalloproteinase‐9 Activity Through Y1 Receptor in Osteoblasts
M. Park, Jong Kil Lee, Namoh Kim, Woo-Kie Min +7 more
2016Stem Cells37 citations Open access
Semantic Scholar
Acid Ceramidase Deficiency is Characterized by a Unique Plasma Cytokine and Ceramide Profile that is Altered by Therapy
Shaalee Dworski, P. Lu, Aneal Khan, B. Maranda +23 more
2016Biochimica et Biophysica Acta - Molecular Basis of Disease37 citations Open access
Semantic Scholar
Pentosan Polysulfate: Oral Versus Subcutaneous Injection in Mucopolysaccharidosis Type I Dogs
C. Simonaro, S. Tomatsu, Tracey U. Sikora, F. Kubaski +8 more
2016PLoS ONE36 citations Open access
Semantic Scholar
Acid Sphingomyelinase Mediates Oxidized-LDL Induced Apoptosis in Macrophage via Endoplasmic Reticulum Stress
Min Zhao, W. Pan, Rui-Zheng Shi, Yong-Ping Bai +6 more
2016Journal of atherosclerosis and thrombosis34 citations Open access
Semantic Scholar
Enhanced Delivery and Effects of Acid Sphingomyelinase by ICAM-1-Targeted Nanocarriers in Type B Niemann-Pick Disease Mice.
C. Garnacho, R. Dhami, Melani A. Solomon, E. Schuchman +1 more
2017Molecular Therapy33 citations Open access
Semantic Scholar
The cholesterol transporter NPC1 is essential for epigenetic regulation and maturation of oligodendrocyte lineage cells
Thaddeus J. Kunkel, A. Townsend, K. Sullivan, Jean Merlet +3 more
2023Nature Communications32 citations Open access
Semantic Scholar
Loss of acid ceramidase in myeloid cells suppresses intestinal neutrophil recruitment
Mel Pilar Espaillat, Ashley J. Snider, Zhijuan Qiu, Breana Channer +6 more
2017The FASEB Journal31 citations Open access
Semantic Scholar
Recombinant Acid Ceramidase Reduces Inflammation and Infection in Cystic Fibrosis
A. Gardner, I. Haq, A. Simpson, K. A. Becker +15 more
2020American Journal of Respiratory and Critical Care Medicine29 citations Open access
Semantic Scholar
Discovery of a dual-action small molecule that improves neuropathological features of Alzheimer’s disease mice
M. Park, Kang Ho Park, Byung Jo Choi, Wan-Hui Han +15 more
2022Proceedings of the National Academy of Sciences of the United States of America23 citations Open access
Semantic Scholar
CD40 Enhances Sphingolipids in Orbital Fibroblasts: Potential Role of Sphingosine-1-Phosphate in Inflammatory T-Cell Migration in Graves' Orbitopathy.
Svenja Plöhn, B. Edelmann, L. Japtok, Xing-Xuan He +5 more
2018Investigative Ophthalmology and Visual Science21 citations Open access
Semantic Scholar
Sphingomyelin 16:0 is a therapeutic target for neuronal death in acid sphingomyelinase deficiency
Á. Gaudioso, Xun-Tian Jiang, J. Casas, E. Schuchman +1 more
2023Cell Death and Disease20 citations Open access
Semantic Scholar
Activity-Based Imaging of Acid Ceramidase in Living Cells.
Yadira F. Ordóñez, J. Abad, Mazen Aseeri, J. Casas +7 more
2019Journal of the American Chemical Society20 citations Open access
Semantic Scholar
Polyarticular Arthritis and Spinal Muscular Atrophy in Acid Ceramidase Deficiency
H. Teoh, A. Sólyom, E. Schuchman, D. Mowat +3 more
2016Pediatrics19 citations Open access
Semantic Scholar
Acid Ceramidase Protects Against Hepatic Ischemia/Reperfusion Injury by Modulating Sphingolipid Metabolism and Reducing Inflammation and Oxidative Stress
Yuan Jiang, Xing-Xuan He, C. Simonaro, Bin Yi +1 more
2021Frontiers in Cell and Developmental Biology17 citations Open access
Semantic Scholar
Inhibition of fatty acid amide hydrolase prevents pathology in neurovisceral acid sphingomyelinase deficiency by rescuing defective endocannabinoid signaling
A. Bartoll, Ana Toledano-Zaragoza, J. Casas, M. Guzmán +2 more
2020EMBO Molecular Medicine16 citations Open access
Semantic Scholar
Multi-omic profiles of hepatic metabolism in TPN-fed preterm pigs administered new generation lipid emulsions[S]
Gregory Guthrie, Madhulika Kulkarni, H. Vlaardingerbroek, B. Stoll +12 more
2016Journal of Lipid Research16 citations Open access
Semantic Scholar
Pentosan Polysulfate Treatment of Mucopolysaccharidosis Type IIIA Mice.
Ningning Guo, Victor A. DeAngelis, Changzhi Zhu, E. Schuchman +1 more
2019JIMD Reports14 citations Open access
Semantic Scholar
Safety Study of Sodium Pentosan Polysulfate for Adult Patients with Mucopolysaccharidosis Type II
K. Orii, A. Lim, S. Tomatsu, Molly Stapleton +5 more
2019Diagnostics14 citations Open access
Semantic Scholar
SiO2 stimulates macrophage stress to induce the transformation of lung fibroblasts into myofibroblasts and its relationship with the sphingomyelin metabolic pathway
Jing Liu, L. Guan, Erjin Wang, E. Schuchman +2 more
2021Journal of Applied Toxicology13 citations
Semantic Scholar
Apolipoprotein D-mediated preservation of lysosomal function promotes cell survival and delays motor impairment in Niemann-Pick type A disease.
Raquel Pascua-Maestro, Miriam Corraliza-Gomez, Cristian Fadrique-Rojo, M. D. Ledesma +3 more
2020Neurobiology of Disease12 citations Open access
Semantic Scholar
Neutrophils Kill Reactive Oxygen Species-Resistant Pseudomonas aeruginosa by Sphingosine
K. A. Becker, Xiang Li, A. Seitz, J. Steinmann +6 more
2017Cellular Physiology and Biochemistry12 citations Open access
Semantic Scholar
Characterization of the Subventricular-Thalamo-Cortical Circuit in the NP-C Mouse Brain, and New Insights Regarding Treatment.
M. Park, Byung Jo Choi, Min Seock Jeong, J. Y. Lee +9 more
2019Molecular Therapy11 citations Open access
Semantic Scholar
The impact of sphingomyelin on the pathophysiology and treatment response to olipudase alfa in acid sphingomyelinase deficiency
Monica P. Kumar, Mario Aguiar, Andreas Jessel, B. Thurberg +5 more
2024Genetics in medicine open10 citations Open access
Semantic Scholar
Immunotherapy targeting plasma ASM is protective in a mouse model of Alzheimer’s disease
Byung Jo Choi, M. Park, Kang Ho Park, Wan-Hui Han +18 more
2023Nature Communications10 citations Open access
Semantic Scholar
Morbidity and mortality associated with Farber disease and prospects for therapy
E. Schuchman, John J. Mitchell, A. Sólyom
20179 citations
Semantic Scholar
Farber disease: Implications of anti-inflammatory treatment
John J. Mitchell, A. Sólyom, B. Makay, N. Arslan +5 more
20169 citations
Semantic Scholar
HDL-bound S1P affects the subventricular niche and early neuropathological features of Alzheimer’s disease
Byung Jo Choi, Ju-Ye-On Hong, M. Park, Kang Ho Park +16 more
2025Nature Communications8 citations Open access
Semantic Scholar
The clinical spectrum of SMA‐PME and in vitro normalization of its cellular ceramide profile
M. M. Lee, Graeme S. V. McDowell, D. De Vivo, Daniel Friedman +13 more
2022Annals of Clinical and Translational Neurology8 citations Open access
Semantic Scholar
New paradigms for the treatment of lysosomal storage diseases: targeting the endocannabinoid system as a therapeutic strategy
E. Schuchman, M. D. Ledesma, C. Simonaro
2021Orphanet Journal of Rare Diseases8 citations Open access
Semantic Scholar
Integrated quantitative systems pharmacology (QSP) model of lysosomal diseases provides an innovative computational platform to support research and therapeutic development for the sphingolipidoses
C. Kaddi, Federico Reali, L. Marchetti, Bradley Niesner +14 more
20188 citations
Semantic Scholar

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