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Biology and Biochemistry

D-Index
60
Citations
11553
World Ranking
12063
National Ranking
5167

Overview

Steven U. Walkley is affiliated with the Albert Einstein College of Medicine in the United States. Their research primarily focuses on the intersection of biochemistry, genetics, and molecular biology, with notable contributions across medicine-related studies.

Their main fields of study include:

  • Biochemistry, Genetics and Molecular Biology
  • Medicine

Walkley's subfields of study encompass genetics, molecular biology, physiology, cell biology, and cognitive neuroscience. The scientist's work addresses several specialized topics such as lysosomal storage disorders research, genomics and rare diseases, cellular transport and secretion, autism spectrum disorder research, genetics and neurodevelopmental disorders, glycosylation and glycoproteins research, and biochemical and molecular research.

Frequent publication venues for Walkley's work include:

  • Molecular Genetics and Metabolism
  • Neuroscience Letters
  • Journal of Neurodevelopmental Disorders
  • Genetics in Medicine

Significant coauthors who have collaborated several times with Walkley include Melissa Wasserstein, Marjan Huizing, David R. Adams, William A. Gahl, and Mary E. Hackbarth. These collaborative efforts have contributed to advancing research in their areas of expertise.

Some recent publications authored or coauthored by Steven U. Walkley are:

  • "Rethinking lysosomes and lysosomal disease," 2021, Neuroscience Letters
  • "Free sialic acid storage disorder: Progress and promise," 2021, Neuroscience Letters
  • "Clinical variants paired with phenotype: A rich resource for brain gene curation," 2023, Genetics in Medicine
  • "The Brain Gene Registry: a data snapshot," 2024, Journal of Neurodevelopmental Disorders
  • "A concerted action to explore therapies for free sialic acid storage disease (FSASD)," 2022, Molecular Genetics and Metabolism

The research by Walkley often addresses genetic and cellular mechanisms underlying rare diseases, with a particular emphasis on lysosomal dysfunction and related pathologies. Their work integrates molecular insights with clinical phenotypes to facilitate understanding and therapies for neurodevelopmental and metabolic disorders.

Best Publications

  • Chronic Cyclodextrin Treatment of Murine Niemann-Pick C Disease Ameliorates Neuronal Cholesterol and Glycosphingolipid Storage and Disease Progression

    Cristin D. Davidson;Nafeeza F. Ali;Matthew C. Micsenyi;Gloria Stephney

  • Autophagy in lysosomal storage disorders

    Andrew P. Lieberman;Rosa Puertollano;Nina Raben;Susan Ann Slaugenhaupt

  • Genetic evidence for nonredundant functional cooperativity between NPC1 and NPC2 in lipid transport

    David E. Sleat;Jennifer A. Wiseman;Mukarram El-Banna;Sandy M. Price

  • Critical role for glycosphingolipids in Niemann-Pick disease type C

    Mark Zervas;Kyra L Somers;Mary Anna Thrall;Steven U Walkley

  • Consequences of NPC1 and NPC2 loss of function in mammalian neurons.

    Steven U. Walkley;Kinuko Suzuki

  • Differential subcellular localization of cholesterol, gangliosides, and glycosaminoglycans in murine models of mucopolysaccharide storage disorders

    Robert McGlynn;Kostantin Dobrenis;Steven U. Walkley

  • Intrathecal 2-hydroxypropyl-β-cyclodextrin decreases neurological disease progression in Niemann-Pick disease, type C1: a non-randomised, open-label, phase 1–2 trial

    Daniel S Ory;Elizabeth A Ottinger;Nicole Yanjanin Farhat;Kelly A King

  • Neurons in Niemann-Pick disease type C accumulate gangliosides as well as unesterified cholesterol and undergo dendritic and axonal alterations.

    Mark Zervas;Kostantin Dobrenis;Steven U. Walkley

  • Secondary lipid accumulation in lysosomal disease

    Steven U. Walkley;Marie T. Vanier

  • Bone marrow transplantation corrects the enzyme defect in neurons of the central nervous system in a lysosomal storage disease

    S U Walkley;M A Thrall;K Dobrenis;M Huang

  • A mouse model for mucopolysaccharidosis type III A (Sanfilippo syndrome)

    Mantu Bhaumik;Vivienne J. Muller;Tina Rozaklis;Johnson Linda

  • Secondary accumulation of gangliosides in lysosomal storage disorders

    Steven U Walkley

  • Cellular Pathology of Lysosomal Storage Disorders

    Steven U. Walkley

  • Intracisternal cyclodextrin prevents cerebellar dysfunction and Purkinje cell death in feline Niemann-Pick type C1 disease

    Charles H. Vite;Jessica H. Bagel;Gary P. Swain;Maria Prociuk

  • Lysosomal Storage Diseases of Animals: An Essay in Comparative Pathology:

    R. D. Jolly;S. U. Walkley

  • Pathogenic cascades in lysosomal disease—Why so complex?

    Steven U. Walkley

  • Pregnane X receptor (PXR) activation: A mechanism for neuroprotection in a mouse model of Niemann-Pick C disease

    S. Joshua Langmade;Sarah E. Gale;Andrey Frolov;Ikuko Mohri

  • Neurologic, Gastric, and Opthalmologic Pathologies in a Murine Model of Mucolipidosis Type IV

    Bhuvarahamurthy Venugopal;Marsha F. Browning;Cyntia Curcio-Morelli;Andrea Varro

  • Niemann-Pick C1 Is Essential for Ebolavirus Replication and Pathogenesis In Vivo

    Andrew S. Herbert;Cristin Davidson;Ana I. Kuehne;Russell Bakken

  • δ-Tocopherol Reduces Lipid Accumulation in Niemann-Pick Type C1 and Wolman Cholesterol Storage Disorders

    Miao Xu;Miao Xu;Ke Liu;Manju Swaroop;Forbes D. Porter

Frequent Co-Authors

Daniel S. Ory
Daniel S. Ory Washington University in St. Louis
Marie T. Vanier
Marie T. Vanier Grenoble Alpes University
Forbes D. Porter
Forbes D. Porter National Institutes of Health
Susan A. Slaugenhaupt
Susan A. Slaugenhaupt Harvard University
William J. Pavan
William J. Pavan National Institutes of Health
Ralph A. Nixon
Ralph A. Nixon Nathan Kline Institute for Psychiatric Research
Jean E. Schaffer
Jean E. Schaffer Harvard University
John J. Hopwood
John J. Hopwood University of Adelaide
Asok Kumar
Asok Kumar Nathan Kline Institute for Psychiatric Research
David R. Hampson
David R. Hampson University of Toronto

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