Brain delivery and activity of a lysosomal enzyme using a blood-brain barrier transport vehicle in mice

Brain delivery of therapeutic proteins using an Fc fragment blood-brain barrier transport vehicle in mice and monkeys

(2020) Mihalis S. Kariolis et al.   Science Translational Medicine

Early increase of CSF sTREM2 in Alzheimer’s disease is associated with tau related-neurodegeneration but not with amyloid-β pathology

(2019) Marc Suárez-Calvet et al.   Molecular Neurodegeneration

Neurofilament light chain as a biomarker in neurological disorders

(2019) Lorenzo Gaetani et al.   JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY

Brain‐targeted stem cell gene therapy corrects mucopolysaccharidosis type II via multiple mechanisms

(2018) Hélène FE Gleitz et al.   EMBO Molecular Medicine

A Blood-Brain-Barrier-Penetrating Anti-human Transferrin Receptor Antibody Fusion Protein for Neuronopathic Mucopolysaccharidosis II

(2018) Hiroyuki Sonoda et al.   MOLECULAR THERAPY

Study of Intraventricular Cerliponase Alfa for CLN2 Disease

(2018) Angela Schulz et al.   NEW ENGLAND JOURNAL OF MEDICINE

Neurocognitive and somatic stabilization in pediatric patients with severe Mucopolysaccharidosis Type I after 52 weeks of intravenous brain-penetrating insulin receptor antibody-iduronidase fusion protein (valanafusp alpha): an open label phase 1-2 trial

(2018) Roberto Giugliani et al.   Orphanet Journal of Rare Diseases

Brain Cell Type Specific Gene Expression and Co-expression Network Architectures

(2018) Andrew T. McKenzie et al.   Scientific Reports

Molecular Architecture of the Mouse Nervous System

(2018) Amit Zeisel et al.   CELL

Anatomical changes and pathophysiology of the brain in mucopolysaccharidosis disorders

(2018) Brian W. Bigger et al.   MOLECULAR GENETICS AND METABOLISM

A molecular atlas of cell types and zonation in the brain vasculature

(2018) Michael Vanlandewijck et al.   NATURE

Microglia in neurodegeneration

(2018) Suzanne Hickman et al.   NATURE NEUROSCIENCE

Iduronate-2-Sulfatase with Anti-human Transferrin Receptor Antibody for Neuropathic Mucopolysaccharidosis II: A Phase 1/2 Trial

(2018) Torayuki Okuyama et al.   MOLECULAR THERAPY

Enhancing ganglioside species detection for MALDI-TOF imaging mass spectrometry in negative reflectron mode

(2017) Ethan Yang et al.   INTERNATIONAL JOURNAL OF MASS SPECTROMETRY

Brain RNA-Seq Profiling of the Mucopolysaccharidosis Type II Mouse Model

(2017) Marika Salvalaio et al.   INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES

Targeting blood-brain-barrier transcytosis – perspectives for drug delivery

(2017) Imre Mäger et al.   NEUROPHARMACOLOGY

Multimodal detection of GM2 and GM3 lipid species in the brain of mucopolysaccharidosis type II mouse by serial imaging mass spectrometry and immunohistochemistry

(2016) Martin Dufresne et al.   ANALYTICAL AND BIOANALYTICAL CHEMISTRY

Oxidative and nitrative stress and pro-inflammatory cytokines in Mucopolysaccharidosis type II patients: effect of long-term enzyme replacement therapy and relation with glycosaminoglycan accumulation

(2016) Carlos Eduardo Diaz Jacques et al.   BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE

Complex heatmaps reveal patterns and correlations in multidimensional genomic data

(2016) Zuguang Gu et al.   BIOINFORMATICS

Elevated TNF-α is associated with pain and physical disability in mucopolysaccharidosis types I, II, and VI

(2016) Lynda E. Polgreen et al.   MOLECULAR GENETICS AND METABOLISM

Myriad maladies

(2016) Michael Eisenstein   NATURE

Comprehensive genomic analysis of malignant pleural mesothelioma identifies recurrent mutations, gene fusions and splicing alterations

(2016) Raphael Bueno et al.   NATURE GENETICS

Neurofilament Light Chain in Blood and CSF as Marker of Disease Progression in Mouse Models and in Neurodegenerative Diseases

(2016) Mehtap Bacioglu et al.   NEURON

Association of Cerebrospinal Fluid Neurofilament Light Concentration With Alzheimer Disease Progression

(2016) Henrik Zetterberg et al.   JAMA Neurology

Elevated cerebral spinal fluid biomarkers in children with mucopolysaccharidosis I-H

(2016) Gerald V. Raymond et al.   Scientific Reports

Neuronopathic lysosomal storage disorders: Approaches to treat the central nervous system

(2015) Maurizio Scarpa et al.   BEST PRACTICE & RESEARCH CLINICAL ENDOCRINOLOGY & METABOLISM

A phase I/II study of intrathecal idursulfase-IT in children with severe mucopolysaccharidosis II

(2015) Joseph Muenzer et al.   GENETICS IN MEDICINE

limma powers differential expression analyses for RNA-sequencing and microarray studies

(2015) Matthew E. Ritchie et al.   NUCLEIC ACIDS RESEARCH

A survey of human brain transcriptome diversity at the single cell level

(2015) Spyros Darmanis et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Neurodegenerative lysosomal disorders: A continuum from development to late age

(2014) Ralph A. Nixon et al.   Autophagy

Insulin receptor antibody-iduronate 2-sulfatase fusion protein: Pharmacokinetics, anti-drug antibody, and safety pharmacology in Rhesus monkeys

(2014) Ruben J. Boado et al.   BIOTECHNOLOGY AND BIOENGINEERING

Skewer: a fast and accurate adapter trimmer for next-generation sequencing paired-end reads

(2014) Hongshan Jiang et al.   BMC BIOINFORMATICS

Current and potential therapeutic strategies for mucopolysaccharidoses

(2014) H. Noh et al.   JOURNAL OF CLINICAL PHARMACY AND THERAPEUTICS

Transferrin receptor (TfR) trafficking determines brain uptake of TfR antibody affinity variants

(2014) Nga Bien-Ly et al.   JOURNAL OF EXPERIMENTAL MEDICINE

An RNA-Sequencing Transcriptome and Splicing Database of Glia, Neurons, and Vascular Cells of the Cerebral Cortex

(2014) Y. Zhang et al.   JOURNAL OF NEUROSCIENCE

Increased Brain Penetration and Potency of a Therapeutic Antibody Using a Monovalent Molecular Shuttle

(2014) Jens Niewoehner et al.   NEURON

Extracellular matrix components mark the territories of circumventricular organs

(2014) Károly Pócsai et al.   NEUROSCIENCE LETTERS

Therapeutic bispecific antibodies cross the blood-brain barrier in nonhuman primates

(2014) Y. J. Yu et al.   Science Translational Medicine

voom: precision weights unlock linear model analysis tools for RNA-seq read counts

(2014) Charity W Law et al.   GENOME BIOLOGY

Cerebrospinal fluid neurofilament concentration reflects disease severity in frontotemporal degeneration

(2013) Carole S. Scherling et al.   ANNALS OF NEUROLOGY

featureCounts: an efficient general purpose program for assigning sequence reads to genomic features

(2013) Y. Liao et al.   BIOINFORMATICS

Tanycyte-like cells form a blood-cerebrospinal fluid barrier in the circumventricular organs of the mouse brain

(2013) Fanny Langlet et al.   JOURNAL OF COMPARATIVE NEUROLOGY

Glycan-based biomarkers for mucopolysaccharidoses

(2013) Roger Lawrence et al.   MOLECULAR GENETICS AND METABOLISM

Developing Therapeutic Antibodies for Neurodegenerative Disease

(2013) Y. Joy Yu et al.   Neurotherapeutics

Sublimation of New Matrix Candidates for High Spatial Resolution Imaging Mass Spectrometry of Lipids: Enhanced Information in Both Positive and Negative Polarities after 1,5-Diaminonapthalene Deposition

(2012) Aurélien Thomas et al.   ANALYTICAL CHEMISTRY

Enzyme Replacement Therapy for Lysosomal Diseases: Lessons from 20 Years of Experience and Remaining Challenges

(2012) R.J. Desnick et al.   Annual Review of Genomics and Human Genetics

STAR: ultrafast universal RNA-seq aligner

(2012) Alexander Dobin et al.   BIOINFORMATICS

Lysosomal storage disorders: The cellular impact of lysosomal dysfunction

(2012) Frances M. Platt et al.   JOURNAL OF CELL BIOLOGY

Immunologic Privilege in the Central Nervous System and the Blood–Brain Barrier

(2012) Leslie L Muldoon et al.   JOURNAL OF CEREBRAL BLOOD FLOW AND METABOLISM

Heparan sulfate and dermatan sulfate derived disaccharides are sensitive markers for newborn screening for mucopolysaccharidoses types I, II and III

(2012) Jessica de Ruijter et al.   MOLECULAR GENETICS AND METABOLISM

Neuropathology in Mouse Models of Mucopolysaccharidosis Type I, IIIA and IIIB

(2012) Fiona L. Wilkinson et al.   PLoS One

Expression in CHO cells and pharmacokinetics and brain uptake in the Rhesus monkey of an IgG-iduronate-2-sulfatase fusion protein

(2011) Jeff Zhiqiang Lu et al.   BIOTECHNOLOGY AND BIOENGINEERING

Characterization of the CLEAR network reveals an integrated control of cellular clearance pathways

(2011) Michela Palmieri et al.   HUMAN MOLECULAR GENETICS

Boosting Brain Uptake of a Therapeutic Antibody by Reducing Its Affinity for a Transcytosis Target

(2011) Y. J. Yu et al.   Science Translational Medicine

Clarifying lysosomal storage diseases

(2011) Mark L. Schultz et al.   TRENDS IN NEUROSCIENCES

Correction of CNS defects in the MPSII mouse model via systemic enzyme replacement therapy

(2010) Vinicia Assunta Polito et al.   HUMAN MOLECULAR GENETICS

Common and Uncommon Pathogenic Cascades in Lysosomal Storage Diseases

(2010) Einat B. Vitner et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Pathophysiology of neuropathic lysosomal storage disorders

(2010) Cinzia Maria Bellettato et al.   JOURNAL OF INHERITED METABOLIC DISEASE

The arcuate nucleus as a circumventricular organ in the mouse

(2010) Philippe Ciofi   NEUROSCIENCE LETTERS

A scaling normalization method for differential expression analysis of RNA-seq data

(2010) Mark D Robinson et al.   GENOME BIOLOGY

IDS Crossing of the Blood-Brain Barrier Corrects CNS Defects in MPSII Mice

(2009) Vinicia Assunta Polito et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Genetic Engineering of a Bifunctional IgG Fusion Protein with Iduronate-2-Sulfatase

(2009) Jeff Zhiqiang Lu et al.   BIOCONJUGATE CHEMISTRY

A Gene Network Regulating Lysosomal Biogenesis and Function

(2009) Marco Sardiello et al.   SCIENCE

Secondary lipid accumulation in lysosomal disease

(2008) Steven U. Walkley et al.   BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR CELL RESEARCH

A Transcriptome Database for Astrocytes, Neurons, and Oligodendrocytes: A New Resource for Understanding Brain Development and Function

(2008) J. D. Cahoy et al.   JOURNAL OF NEUROSCIENCE

Recognition and Diagnosis of Mucopolysaccharidosis II (Hunter Syndrome)

(2008) R. Martin et al.   PEDIATRICS