Gaucher disease iPSC-derived osteoblasts have developmental and lysosomal defects that impair bone matrix deposition

Management goals for type 1 Gaucher disease: An expert consensus document from the European working group on Gaucher disease

(2018) M. Biegstraaten et al.   BLOOD CELLS MOLECULES AND DISEASES

MANAGEMENT OF ENDOCRINE DISEASE: Novel anabolic treatments for osteoporosis

(2017) Ernesto Canalis   EUROPEAN JOURNAL OF ENDOCRINOLOGY

Concise Review: Stem Cells in Osteoimmunology

(2017) Fernando A. Fierro et al.   STEM CELLS

Altered Differentiation Potential of Gaucher’s Disease iPSC Neuronal Progenitors due to Wnt/β-Catenin Downregulation

(2017) Ola Awad et al.   Stem Cell Reports

A peptide-linked recombinant glucocerebrosidase for targeted neuronal delivery: Design, production, and assessment

(2016) Paul A. Gramlich et al.   JOURNAL OF BIOTECHNOLOGY

Lysosomal Dysfunction and α-Synuclein Aggregation in Parkinson's Disease: Diagnostic Links

(2016) Tim Moors et al.   MOVEMENT DISORDERS

Two pioneering osteoporosis drugs finally approach approval

(2016) Ken Garber   NATURE REVIEWS DRUG DISCOVERY

Plasma Membrane Repair Is Regulated Extracellularly by Proteases Released from Lysosomes

(2016) Thiago Castro-Gomes et al.   PLoS One

Human iPSC-derived osteoblasts and osteoclasts together promote bone regeneration in 3D biomaterials

(2016) Ok Hee Jeon et al.   Scientific Reports

GBA deficiency promotes SNCA/α-synuclein accumulation through autophagic inhibition by inactivated PPP2A

(2015) Ting-Ting Du et al.   Autophagy

Altered TFEB-mediated lysosomal biogenesis in Gaucher disease iPSC-derived neuronal cells

(2015) Ola Awad et al.   HUMAN MOLECULAR GENETICS

Effect of Oral Eliglustat on Splenomegaly in Patients With Gaucher Disease Type 1

(2015) Pramod K. Mistry et al.   JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION

Gaucher Disease: Clinical, Biological and Therapeutic Aspects

(2015) Azza Dandana et al.   PATHOBIOLOGY

Gaucher Disease-Induced Pluripotent Stem Cells Display Decreased Erythroid Potential and Aberrant Myelopoiesis

(2015) Judi A. Sgambato et al.   Stem Cells Translational Medicine

Pathogenesis of Bone Alterations in Gaucher Disease: The Role of Immune System

(2015) Juan Marcos Mucci et al.   Journal of Immunology Research

Gaucher disease: haematological presentations and complications

(2014) Alison S. Thomas et al.   BRITISH JOURNAL OF HAEMATOLOGY

Glucocerebrosidase deficiency in zebrafish affects primary bone ossification through increased oxidative stress and reduced Wnt/β-catenin signaling

(2014) Ilaria Zancan et al.   HUMAN MOLECULAR GENETICS

Can we safely target the WNT pathway?

(2014) Michael Kahn   NATURE REVIEWS DRUG DISCOVERY

Skeletal improvement in patients with Gaucher disease type 1: a phase 2 trial of oral eliglustat

(2014) Ravi S. Kamath et al.   SKELETAL RADIOLOGY

Gaucher iPSC-Derived Macrophages Produce Elevated Levels of Inflammatory Mediators and Serve as a New Platform for Therapeutic Development

(2014) Leelamma M. Panicker et al.   STEM CELLS

iPSC-derived neurons from GBA1-associated Parkinson’s disease patients show autophagic defects and impaired calcium homeostasis

(2014) David C. Schöndorf et al.   Nature Communications

Uncoupling of osteoblast–osteoclast regulation in a chemical murine model of Gaucher disease

(2013) Juan M. Mucci et al.   GENE

WNT signaling in bone homeostasis and disease: from human mutations to treatments

(2013) Roland Baron et al.   NATURE MEDICINE

Unfolded protein response in Gaucher disease: from human to Drosophila

(2013) Gali Maor et al.   Orphanet Journal of Rare Diseases

Expression of Human Gaucher Disease Gene GBA Generates Neurodevelopmental Defects and ER Stress in Drosophila Eye

(2013) Takahiro Suzuki et al.   PLoS One

Induced pluripotent stem cell model recapitulates pathologic hallmarks of Gaucher disease

(2012) L. M. Panicker et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Membrane Trafficking in Osteoblasts and Osteoclasts: New Avenues for Understanding and Treating Skeletal Diseases

(2012) Haibo Zhao   TRAFFIC

Significant and continuous improvement in bone mineral density among type 1 Gaucher disease patients treated with velaglucerase alfa: 69-month experience, including dose reduction

(2011) Deborah Elstein et al.   BLOOD CELLS MOLECULES AND DISEASES

Gaucher Disease Glucocerebrosidase and α-Synuclein Form a Bidirectional Pathogenic Loop in Synucleinopathies

(2011) Joseph R. Mazzulli et al.   CELL

Acidic bone matrix proteins and their roles in calcification

(2011) Ryuichi Fujisawa   Frontiers in Bioscience-Landmark

Spatial and temporal correlation between neuron loss and neuroinflammation in a mouse model of neuronopathic Gaucher disease

(2011) T. Farfel-Becker et al.   HUMAN MOLECULAR GENETICS

Therapeutic approaches to bone pathology in Gaucher disease: Past, present and future

(2011) Ozlem Goker-Alpan   MOLECULAR GENETICS AND METABOLISM

Impaired autophagosomes and lysosomes in neuronopathic Gaucher disease

(2010) Ying Sun et al.   Autophagy

A phase 2 study of eliglustat tartrate (Genz-112638), an oral substrate reduction therapy for Gaucher disease type 1

(2010) E. Lukina et al.   BLOOD

Osteopenia in Gaucher disease develops early in life: Response to imiglucerase enzyme therapy in children, adolescents and adults

(2010) Pramod K. Mistry et al.   BLOOD CELLS MOLECULES AND DISEASES

Gaucher disease with foamy transformed macrophages and erythrophagocytic activity

(2010) Maciej Machaczka et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Glucocerebrosidase gene-deficient mouse recapitulates Gaucher disease displaying cellular and molecular dysregulation beyond the macrophage

(2010) P. K. Mistry et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

The Mechanism of Mineralization and the Role of Alkaline Phosphatase in Health and Disease

(2010) Hideo Orimo   JOURNAL OF NIPPON MEDICAL SCHOOL

Uptake of a Recombinant Human α-L-Iduronidase (laronidase) by Cultured Fibroblasts and Osteoblasts

(2008) Takahiro Tsukimura et al.   BIOLOGICAL & PHARMACEUTICAL BULLETIN

Lysosome Dispersion in Osteoblasts Accommodates Enhanced Collagen Production during Differentiation

(2008) Noushin Nabavi et al.   JOURNAL OF BIOLOGICAL CHEMISTRY