Induced Pluripotent Stem Cells to Understand Mucopolysaccharidosis. I: Demonstration of a Migration Defect in Neural Precursors

Generation of human induced pluripotent stem cell line UNIGEi001-A from a 2-years old patient with Mucopolysaccharidosis type IH disease

(2019) Silvin Lito et al.   Stem Cell Research

Neuronal Migration During Development of the Cerebellum

(2018) Maryam Rahimi-Balaei et al.   Frontiers in Cellular Neuroscience

Treatment of brain disease in the mucopolysaccharidoses

(2017) Maurizio Scarpa et al.   MOLECULAR GENETICS AND METABOLISM

Developmental and behavioral aspects of mucopolysaccharidoses with brain manifestations — Neurological signs and symptoms

(2017) Elsa G. Shapiro et al.   MOLECULAR GENETICS AND METABOLISM

Early disease progression of Hurler syndrome

(2017) Bridget T. Kiely et al.   Orphanet Journal of Rare Diseases

Modeling Alzheimer's disease with human induced pluripotent stem (iPS) cells

(2016) Alison E. Mungenast et al.   MOLECULAR AND CELLULAR NEUROSCIENCE

Manifestation of Huntington’s disease pathology in human induced pluripotent stem cell-derived neurons

(2016) Evgeny D. Nekrasov et al.   Molecular Neurodegeneration

Hippo Pathway in Organ Size Control, Tissue Homeostasis, and Cancer

(2015) Fa-Xing Yu et al.   CELL

Heparan Sulfate Saccharides Modify Focal Adhesions: Implication in Mucopolysaccharidosis Neuropathophysiology

(2015) Julie Bruyère et al.   JOURNAL OF MOLECULAR BIOLOGY

Neurocognition across the spectrum of mucopolysaccharidosis type I: Age, severity, and treatment

(2015) Elsa G. Shapiro et al.   MOLECULAR GENETICS AND METABOLISM

Early treatment is associated with improved cognition in Hurler syndrome

(2014) Michele D. Poe et al.   ANNALS OF NEUROLOGY

Investigating human disease using stem cell models

(2014) Jared L. Sterneckert et al.   NATURE REVIEWS GENETICS

Genetic Background Drives Transcriptional Variation in Human Induced Pluripotent Stem Cells

(2014) Foad Rouhani et al.   PLoS Genetics

Genome editing of human pluripotent stem cells to generate human cellular disease models

(2013) K. Musunuru   Disease Models & Mechanisms

A defective Krab-domain zinc-finger transcription factor contributes to altered myogenesis in myotonic dystrophy type 1

(2013) Morgane Gauthier et al.   HUMAN MOLECULAR GENETICS

Generation of an ICF Syndrome Model by Efficient Genome Editing of Human Induced Pluripotent Stem Cells Using the CRISPR System

(2013) Takuro Horii et al.   INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES

A TALEN Genome-Editing System for Generating Human Stem Cell-Based Disease Models

(2012) Qiurong Ding et al.   Cell Stem Cell

Respiratory and sleep disorders in mucopolysaccharidosis

(2012) Kenneth I. Berger et al.   JOURNAL OF INHERITED METABOLIC DISEASE

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

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

Mutant Human Embryonic Stem Cells Reveal Neurite and Synapse Formation Defects in Type 1 Myotonic Dystrophy

(2011) Antoine Marteyn et al.   Cell Stem Cell

Hyperactive behaviour in the mouse model of mucopolysaccharidosis IIIB in the open field and home cage environments

(2011) A. Langford-Smith et al.   GENES BRAIN AND BEHAVIOR

Modeling neuronal defects associated with a lysosomal disorder using patient-derived induced pluripotent stem cells

(2011) Thomas Lemonnier et al.   HUMAN MOLECULAR GENETICS

Cardiac disease in patients with mucopolysaccharidosis: presentation, diagnosis and management

(2011) Elizabeth A. Braunlin et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Induced pluripotent stem cells for modelling human diseases

(2011) J. J. Unternaehrer et al.   PHILOSOPHICAL TRANSACTIONS OF THE ROYAL SOCIETY B-BIOLOGICAL SCIENCES

Female Mucopolysaccharidosis IIIA Mice Exhibit Hyperactivity and a Reduced Sense of Danger in the Open Field Test

(2011) Alex Langford-Smith et al.   PLoS One

Overview of the mucopolysaccharidoses

(2011) J. Muenzer   RHEUMATOLOGY

Heparan Sulfate Proteoglycans

(2011) S. Sarrazin et al.   Cold Spring Harbor Perspectives in Biology

Circadian rhythm and suprachiasmatic nucleus alterations in the mouse model of mucopolysaccharidosis IIIB

(2010) Maria M. Canal et al.   BEHAVIOURAL BRAIN RESEARCH

Hematopoietic differentiation of induced pluripotent stem cells from patients with mucopolysaccharidosis type I (Hurler syndrome)

(2010) J. Tolar et al.   BLOOD

Recent Stem Cell Advances: Induced Pluripotent Stem Cells for Disease Modeling and Stem Cell–Based Regeneration

(2010) Yoshinori Yoshida et al.   CIRCULATION

Mucopolysaccharidosis I, II, and VI: brief review and guidelines for treatment

(2010) Roberto Giugliani et al.   GENETICS AND MOLECULAR BIOLOGY

Functions of Chondroitin Sulfate and Heparan Sulfate in the Developing Brain

(2010) N. Maeda et al.   NEUROCHEMICAL RESEARCH

edgeR: a Bioconductor package for differential expression analysis of digital gene expression data

(2009) M. D. Robinson et al.   BIOINFORMATICS

Syndecans as receptors and organizers of the extracellular matrix

(2009) Xiaojie Xian et al.   CELL AND TISSUE RESEARCH

Highly efficient neural conversion of human ES and iPS cells by dual inhibition of SMAD signaling

(2009) Stuart M Chambers et al.   NATURE BIOTECHNOLOGY

Brain Extracellular Matrix in Neurodegeneration

(2008) Dafna Bonneh-Barkay et al.   BRAIN PATHOLOGY

Disease-Specific Induced Pluripotent Stem Cells

(2008) In-Hyun Park et al.   CELL

The mucopolysaccharidoses: a success of molecular medicine

(2008) Lorne A. Clarke   EXPERT REVIEWS IN MOLECULAR MEDICINE

Induced pluripotent stem cells from a spinal muscular atrophy patient

(2008) Allison D. Ebert et al.   NATURE

Mucopolysaccharidosis I: Management and Treatment Guidelines

(2008) J. Muenzer et al.   PEDIATRICS