Transcription factor EB (TFEB) is a new therapeutic target for Pompe disease

Autophagy and mitochondria in Pompe disease: Nothing is so new as what has long been forgotten

(2012) Nina Raben et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS

The genotype-phenotype correlation in Pompe disease

(2012) Marian Kroos et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS

MTORC1 functions as a transcriptional regulator of autophagy by preventing nuclear transport of TFEB

(2012) Jose A. Martina et al.   Autophagy

Autophagy in lysosomal storage disorders

(2012) Andrew P. Lieberman et al.   Autophagy

A lysosome-to-nucleus signalling mechanism senses and regulates the lysosome via mTOR and TFEB

(2012) Carmine Settembre et al.   EMBO JOURNAL

Glycosylation-independent Lysosomal Targeting of Acid α-Glucosidase Enhances Muscle Glycogen Clearance in Pompe Mice

(2012) John A. Maga et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

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

(2012) Miao Xu et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Pharmacological Enhancement of α-Glucosidase by the Allosteric Chaperone N-acetylcysteine

(2012) Caterina Porto et al.   MOLECULAR THERAPY

A bacterial glycosidase enables mannose-6-phosphate modification and improved cellular uptake of yeast-produced recombinant human lysosomal enzymes

(2012) Petra Tiels et al.   NATURE BIOTECHNOLOGY

The Transcription Factor TFEB Links mTORC1 Signaling to Transcriptional Control of Lysosome Homeostasis

(2012) A. Roczniak-Ferguson et al.   Science Signaling

TFEB regulates autophagy: An integrated coordination of cellular degradation and recycling processes

(2011) Carmine Settembre et al.   Autophagy

Enzyme Replacement Therapy for Pompe Disease

(2011) Corrado Angelini et al.   Current Neurology and Neuroscience Reports

Enzyme replacement therapy for lysosomal storage diseases

(2011) Robin H. Lachmann   CURRENT OPINION IN PEDIATRICS

Transcriptional Activation of Lysosomal Exocytosis Promotes Cellular Clearance

(2011) Diego L. Medina et al.   DEVELOPMENTAL CELL

The impact of antibodies on clinical outcomes in diseases treated with therapeutic protein: Lessons learned from infantile Pompe disease

(2011) Suhrad G. Banugaria et al.   GENETICS IN MEDICINE

Pompe disease gene therapy

(2011) B. J. Byrne et al.   HUMAN MOLECULAR GENETICS

Human Pompe disease-induced pluripotent stem cells for pathogenesis modeling, drug testing and disease marker identification

(2011) Hsiang-Po Huang et al.   HUMAN MOLECULAR GENETICS

The cellular pathology of lysosomal diseases

(2011) Timothy M Cox et al.   JOURNAL OF PATHOLOGY

Generation of induced pluripotent stem (iPS) cells derived from a murine model of Pompe disease and differentiation of Pompe-iPS cells into skeletal muscle cells

(2011) Shiho Kawagoe et al.   MOLECULAR GENETICS AND METABOLISM

β2 Agonists enhance the efficacy of simultaneous enzyme replacement therapy in murine Pompe disease

(2011) Dwight D. Koeberl et al.   MOLECULAR GENETICS AND METABOLISM

TFEB Links Autophagy to Lysosomal Biogenesis

(2011) C. Settembre et al.   SCIENCE

Suppression of autophagy permits successful enzyme replacement therapy in a lysosomal storage disorder—murine Pompe disease

(2010) Nina Raben et al.   Autophagy

Lysosomal fusion and SNARE function are impaired by cholesterol accumulation in lysosomal storage disorders

(2010) Alessandro Fraldi et al.   EMBO JOURNAL

Discovery of 1-(4-(4-Propionylpiperazin-1-yl)-3-(trifluoromethyl)phenyl)-9-(quinolin-3-yl)benzo[h][1,6]naphthyridin-2(1H)-one as a Highly Potent, Selective Mammalian Target of Rapamycin (mTOR) Inhibitor for the Treatment of Cancer

(2010) Qingsong Liu et al.   JOURNAL OF MEDICINAL CHEMISTRY

A Randomized Study of Alglucosidase Alfa in Late-Onset Pompe's Disease

(2010) Ans T. van der Ploeg et al.   NEW ENGLAND JOURNAL OF MEDICINE

Cyclodextrin Induces Calcium-Dependent Lysosomal Exocytosis

(2010) Fannie W. Chen et al.   PLoS One

Immortalization of murine muscle cells from lysosomal α-glucosidase deficient mice: A new tool to study pathophysiology and assess therapeutic strategies for Pompe disease

(2009) Gaëlle Douillard-Guilloux et al.   BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS

Mammalian autophagy: core molecular machinery and signaling regulation

(2009) Zhifen Yang et al.   CURRENT OPINION IN CELL BIOLOGY

Enzyme replacement therapy with alglucosidase alfa in 44 patients with late-onset glycogen storage disease type 2: 12-month results of an observational clinical trial

(2009) S. Strothotte et al.   JOURNAL OF NEUROLOGY

Murine muscle cell models for Pompe disease and their use in studying therapeutic approaches

(2009) Shoichi Takikita et al.   MOLECULAR GENETICS AND METABOLISM

Cross-reactive immunologic material status affects treatment outcomes in Pompe disease infants

(2009) Priya S. Kishnani et al.   MOLECULAR GENETICS AND METABOLISM

The Pharmacological Chaperone N-butyldeoxynojirimycin Enhances Enzyme Replacement Therapy in Pompe Disease Fibroblasts

(2009) Caterina Porto et al.   MOLECULAR THERAPY

Glycoengineered Acid α-Glucosidase With Improved Efficacy at Correcting the Metabolic Aberrations and Motor Function Deficits in a Mouse Model of Pompe Disease

(2009) Yunxiang Zhu et al.   MOLECULAR THERAPY

Lysosome biogenesis and lysosomal membrane proteins: trafficking meets function

(2009) Paul Saftig et al.   NATURE REVIEWS MOLECULAR CELL BIOLOGY

Neuraminidase 1 Is a Negative Regulator of Lysosomal Exocytosis

(2008) Gouri Yogalingam et al.   DEVELOPMENTAL CELL

Pompe's disease

(2008) Ans T van der Ploeg et al.   LANCET

Therapeutic approaches in glycogen storage disease type II/pompe disease

(2008) Benedikt Schoser et al.   Neurotherapeutics