Abnormal LAMP1 glycosylation may play a role in Niemann-Pick disease, type C pathology

• Niamh X. Cawley ,

  Roles Conceptualization, Data curation, Formal analysis, Investigation, Methodology, Project administration, Supervision, Validation, Visualization, Writing – original draft, Writing – review & editing

  ¶‡ These authors are Joint first authors on this work.

  Affiliation Section on Molecular Dysmorphology, Division of Translational Medicine, Department of Health and Human Services, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, MD, United States of America

  http://orcid.org/0000-0003-2785-5941

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• Caitlin Sojka ,

  Roles Data curation, Formal analysis, Investigation, Methodology, Validation, Visualization, Writing – original draft, Writing – review & editing

  ¶‡ These authors are Joint first authors on this work.

  Affiliation Section on Molecular Dysmorphology, Division of Translational Medicine, Department of Health and Human Services, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, MD, United States of America

  http://orcid.org/0000-0003-0902-8694

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• Antony Cougnoux,

  Roles Investigation, Methodology, Resources, Visualization, Writing – review & editing

  Affiliation Section on Molecular Dysmorphology, Division of Translational Medicine, Department of Health and Human Services, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, MD, United States of America

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• Anna T. Lyons,

  Roles Data curation, Writing – review & editing

  Affiliation Section on Molecular Dysmorphology, Division of Translational Medicine, Department of Health and Human Services, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, MD, United States of America

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• Elena‐Raluca Nicoli,

  Roles Data curation, Formal analysis, Writing – review & editing

  Affiliation Department of Health and Human Services, Pediatric Undiagnosed Diseases Program, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, United States of America

  http://orcid.org/0000-0002-5545-630X

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• Christopher A. Wassif,

  Roles Conceptualization, Formal analysis, Project administration, Resources, Writing – review & editing

  Affiliation Section on Molecular Dysmorphology, Division of Translational Medicine, Department of Health and Human Services, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, MD, United States of America

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• Forbes D. Porter

  Roles Conceptualization, Data curation, Formal analysis, Resources, Supervision, Writing – review & editing

  * E-mail: fdporter@mail.nih.gov

  Affiliation Section on Molecular Dysmorphology, Division of Translational Medicine, Department of Health and Human Services, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, MD, United States of America

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