Related references
Note: Only part of the references are listed.Spatial Control of the TSC Complex Integrates Insulin and Nutrient Regulation of mTORC1 at the Lysosome
Suchithra Menon et al.
CELL (2014)
Regulation of TORC1 in Response to Amino Acid Starvation via Lysosomal Recruitment of TSC2
Constantinos Demetriades et al.
CELL (2014)
Novel roles for the MiTF/TFE family of transcription factors in organelle biogenesis, nutrient sensing, and energy homeostasis
Jose A. Martina et al.
CELLULAR AND MOLECULAR LIFE SCIENCES (2014)
Adjunctive albuterol enhances the response to enzyme replacement therapy in late-onset Pompe disease
Dwight D. Koeberl et al.
FASEB JOURNAL (2014)
Pathophysiological importance of aggregated damaged proteins
Annika Hoehn et al.
FREE RADICAL BIOLOGY AND MEDICINE (2014)
Treatment of lysosomal storage disorders: successes and challenges
Carla E. M. Hollak et al.
JOURNAL OF INHERITED METABOLIC DISEASE (2014)
The Nutrient-Responsive Transcription Factor TFE3 Promotes Autophagy, Lysosomal Biogenesis, and Clearance of Cellular Debris
Jose A. Martina et al.
SCIENCE SIGNALING (2014)
Regulation of mTORC1 by amino acids
Liron Bar-Peled et al.
TRENDS IN CELL BIOLOGY (2014)
Lysosomal Adaptation: How the Lysosome Responds to External Cues
Carmine Settembre et al.
COLD SPRING HARBOR PERSPECTIVES IN BIOLOGY (2014)
The value of muscle biopsies in Pompe disease: identifying lipofuscin inclusions in juvenile-and adult-onset patients
Erin J. Feeney et al.
ACTA NEUROPATHOLOGICA COMMUNICATIONS (2014)
How to describe the clinical spectrum in Pompe disease?
Deniz Gungor et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2013)
What else is in store for autophagy? Exocytosis of autolysosomes as a mechanism of TFEB-mediated cellular clearance in Pompe disease
Erin J. Feeney et al.
AUTOPHAGY (2013)
Transcription factor EB (TFEB) is a new therapeutic target for Pompe disease
Carmine Spampanato et al.
EMBO MOLECULAR MEDICINE (2013)
Phase I/II Trial of Adeno-Associated Virus-Mediated Alpha-Glucosidase Gene Therapy to the Diaphragm for Chronic Respiratory Failure in Pompe Disease: Initial Safety and Ventilatory Outcomes
Barbara K. Smith et al.
HUMAN GENE THERAPY (2013)
A Novel Mutation of the GAA Gene in a Patient with Adult-onset Pompe Disease Lacking a Disease-specific Pathology
Shohei Fujimoto et al.
INTERNAL MEDICINE (2013)
Glycosylation-independent Lysosomal Targeting of Acid α-Glucosidase Enhances Muscle Glycogen Clearance in Pompe Mice
John A. Maga et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2013)
Regulation of mTORC1 by the Rag GTPases is necessary for neonatal autophagy and survival
Alejo Efeyan et al.
NATURE (2013)
Skeletal muscle pathology of infantile Pompe disease during long-term enzyme replacement therapy
Sean N. Prater et al.
ORPHANET JOURNAL OF RARE DISEASES (2013)
A Nonsense Mutation in the Acid α-Glucosidase Gene Causes Pompe Disease in Finnish and Swedish Lapphunds
Eija H. Seppala et al.
PLOS ONE (2013)
Pompe Disease: Early Diagnosis and Early Treatment Make a Difference
Yin-Hsiu Chien et al.
PEDIATRICS AND NEONATOLOGY (2013)
Toward deconstructing the phenotype of late-onset Pompe disease
Angela Schüller et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS (2012)
The genotype-phenotype correlation in Pompe disease
Marian Kroos et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS (2012)
Impaired autophagy contributes to muscle atrophy in glycogen storage disease type II patients
Anna Chiara Nascimbeni et al.
AUTOPHAGY (2012)
MTORC1 functions as a transcriptional regulator of autophagy by preventing nuclear transport of TFEB
Jose A. Martina et al.
AUTOPHAGY (2012)
Autophagy in lysosomal storage disorders
Andrew P. Lieberman et al.
AUTOPHAGY (2012)
The role of autophagy in the pathogenesis of glycogen storage disease type II (GSDII)
A. C. Nascimbeni et al.
CELL DEATH AND DIFFERENTIATION (2012)
Enzyme Replacement Therapy for Pompe Disease
Corrado Angelini et al.
CURRENT NEUROLOGY AND NEUROSCIENCE REPORTS (2012)
A lysosome-to-nucleus signalling mechanism senses and regulates the lysosome via mTOR and TFEB
Carmine Settembre et al.
EMBO JOURNAL (2012)
Lipofuscin is formed independently of macroautophagy and lysosomal activity in stress-induced prematurely senescent human fibroblasts
Annika Hoehn et al.
FREE RADICAL BIOLOGY AND MEDICINE (2012)
The emerging phenotype of long-term survivors with infantile Pompe disease
Sean N. Prater et al.
GENETICS IN MEDICINE (2012)
Neonatal screening for lysosomal storage disorders: feasibility and incidence from a nationwide study in Austria
Thomas P. Mechtler et al.
LANCET (2012)
Pharmacological Enhancement of α-Glucosidase by the Allosteric Chaperone N-acetylcysteine
Caterina Porto et al.
MOLECULAR THERAPY (2012)
A bacterial glycosidase enables mannose-6-phosphate modification and improved cellular uptake of yeast-produced recombinant human lysosomal enzymes
Petra Tiels et al.
NATURE BIOTECHNOLOGY (2012)
Muscle glycogen storage disease 0 presenting recurrent syncope with weakness and myalgia
Sayuri Sukigara et al.
NEUROMUSCULAR DISORDERS (2012)
Acid phosphatase-positive globular inclusions is a good diagnostic marker for two patients with adult-onset Pompe disease lacking disease specific pathology
Rie S. Tsuburaya et al.
NEUROMUSCULAR DISORDERS (2012)
A cross-sectional single-centre study on the spectrum of Pompe disease, German patients: molecular analysis of the GAA gene, manifestation and genotype-phenotype correlations
Andreas Herzog et al.
ORPHANET JOURNAL OF RARE DISEASES (2012)
TFEB regulates autophagy An integrated coordination of cellular degradation and recycling processes
Carmine Settembre et al.
AUTOPHAGY (2011)
Transcriptional Activation of Lysosomal Exocytosis Promotes Cellular Clearance
Diego L. Medina et al.
DEVELOPMENTAL CELL (2011)
The impact of antibodies on clinical outcomes in diseases treated with therapeutic protein: Lessons learned from infantile Pompe disease
Suhrad G. Banugaria et al.
GENETICS IN MEDICINE (2011)
Pompe disease gene therapy
Barry J. Byrne et al.
HUMAN MOLECULAR GENETICS (2011)
Autophagy in skeletal muscle: implications for Pompe disease
L. Shea et al.
INTERNATIONAL JOURNAL OF CLINICAL PHARMACOLOGY AND THERAPEUTICS (2011)
Chaperone-mediated autophagy at a glance
Susmita Kaushik et al.
JOURNAL OF CELL SCIENCE (2011)
mTORC1 Senses Lysosomal Amino Acids Through an Inside-Out Mechanism That Requires the Vacuolar H+-ATPase
Roberto Zoncu et al.
SCIENCE (2011)
TFEB Links Autophagy to Lysosomal Biogenesis
Carmine Settembre et al.
SCIENCE (2011)
Mitochondrial Turnover and Aging of Long-Lived Postmitotic Cells: The Mitochondrial-Lysosomal Axis Theory of Aging
Alexei Terman et al.
ANTIOXIDANTS & REDOX SIGNALING (2010)
Suppression of autophagy permits successful enzyme replacement therapy in a lysosomal storage disorder-murine Pompe disease
Nina Raben et al.
AUTOPHAGY (2010)
Autophagy inhibition induces atrophy and myopathy in adult skeletal muscles
Eva Masiero et al.
AUTOPHAGY (2010)
Methods in Mammalian Autophagy Research
Noboru Mizushima et al.
CELL (2010)
Mammalian autophagy: core molecular machinery and signaling regulation
Zhifen Yang et al.
CURRENT OPINION IN CELL BIOLOGY (2010)
The angiotensin-converting enzyme insertion/deletion polymorphism modifies the clinical outcome in patients with Pompe disease
Paola de Filippi et al.
GENETICS IN MEDICINE (2010)
Restoration of muscle functionality by genetic suppression of glycogen synthesis in a murine model of Pompe disease
Gaelle Douillard-Guilloux et al.
HUMAN MOLECULAR GENETICS (2010)
Treatment of infantile Pompe disease with alglucosidase alpha: the UK experience
Anupam Chakrapani et al.
JOURNAL OF INHERITED METABOLIC DISEASE (2010)
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
S. Strothotte et al.
JOURNAL OF NEUROLOGY (2010)
Differences in the predominance of lysosomal and autophagic pathologies between infants and adults with Pompe disease: implications for therapy
Nina Raben et al.
MOLECULAR GENETICS AND METABOLISM (2010)
A Randomized Study of Alglucosidase Alfa in Late-Onset Pompe's Disease.
Ans T. van der Ploeg et al.
NEW ENGLAND JOURNAL OF MEDICINE (2010)
Fiber Type Conversion by PGC-1α Activates Lysosomal and Autophagosomal Biogenesis in Both Unaffected and Pompe Skeletal Muscle
Shoichi Takikita et al.
PLOS ONE (2010)
Mitochondrial dysfunction and oxidative stress mediate the physiological impairment induced by the disruption of autophagy
J. Julie Wu et al.
AGING-US (2009)
Regulation Mechanisms and Signaling Pathways of Autophagy
Congcong He et al.
ANNUAL REVIEW OF GENETICS (2009)
Autophagy Is Required to Maintain Muscle Mass
Eva Masiero et al.
CELL METABOLISM (2009)
Clinical outcomes after long-term treatment with alglucosidase alfa in infants and children with advanced Pompe disease
Marc Nicolino et al.
GENETICS IN MEDICINE (2009)
Identification of a novel mutation in GYS1 (muscle-specific glycogen synthase) resulting in sudden cardiac death, that is diagnosable from skin fibroblasts
Jessie M. Cameron et al.
MOLECULAR GENETICS AND METABOLISM (2009)
The Pharmacological Chaperone N-butyldeoxynojirimycin Enhances Enzyme Replacement Therapy in Pompe Disease Fibroblasts
Caterina Porto et al.
MOLECULAR THERAPY (2009)
Glycoengineered Acid alpha-Glucosidase With Improved Efficacy at Correcting the Metabolic Aberrations and Motor Function Deficits in a Mouse Model of Pompe Disease
Yunxiang Zhu et al.
MOLECULAR THERAPY (2009)
Lysosome biogenesis and lysosomal membrane proteins: trafficking meets function
Paul Saftig et al.
NATURE REVIEWS MOLECULAR CELL BIOLOGY (2009)
Pompe Disease in Infants: Improving the Prognosis by Newborn Screening and Early Treatment
Yin-Hsiu Chien et al.
PEDIATRICS (2009)
A Gene Network Regulating Lysosomal Biogenesis and Function
Marco Sardiello et al.
SCIENCE (2009)
The role of autophagy in neonatal tissues - Just a response to amino acid starvation?
Stefano Schiaffino et al.
AUTOPHAGY (2008)
Modulation of glycogen synthesis by RNA interference: towards a new therapeutic approach for glycogenosis type II
Gaelle Douillard-Guilloux et al.
HUMAN MOLECULAR GENETICS (2008)
Suppression of autophagy in skeletal muscle uncovers the accumulation of ubiquitinated proteins and their potential role in muscle damage in Pompe disease
Nina Raben et al.
HUMAN MOLECULAR GENETICS (2008)
Therapeutic approaches in glycogen storage disease type II/Pompe disease
Benedikt Schoser et al.
NEUROTHERAPEUTICS (2008)
Early detection of Pompe disease by newborn screening is feasible: Results from the Taiwan screening program
Yin-Hsiu Chien et al.
PEDIATRICS (2008)
Homeostatic levels of p62 control cytoplasmic inclusion body formation in autophagy-deficient mice
Masaaki Komatsu et al.
CELL (2007)
Deconstructing Pompe disease by analyzing single muscle fibers
Nina Raben et al.
AUTOPHAGY (2007)
Autophagy: from phenomenology to molecular understanding in less than a decade
Daniel J. Klionsky
NATURE REVIEWS MOLECULAR CELL BIOLOGY (2007)
Brief report:: Cardiomyopathy and exercise intolerance in muscle glycogen storage disease 0
Gittan Kollberg et al.
NEW ENGLAND JOURNAL OF MEDICINE (2007)
Adult-onset glycogen storage disease type 2:: clinico-pathological phenotype revisited
B. G. H. Schoser et al.
NEUROPATHOLOGY AND APPLIED NEUROBIOLOGY (2007)
p62/SQSTM1 binds directly to Atg8/LC3 to facilitate degradation of ubiquitinated protein aggregates by autophagy
Serhiy Pankiv et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2007)
Recombinant human acid α-glucosidase -: Major clinical benefits in infantile-onset Pompe disease
P. S. Kishnani et al.
NEUROLOGY (2007)
Characterization of pre- and post-treatment pathology after enzyme replacement therapy for pompe disease
Beth L. Thurberg et al.
LABORATORY INVESTIGATION (2006)
Autophagy and mistargeting of therapeutic enzyme in skeletal muscle in Pompe disease
Tokiko Fukuda et al.
MOLECULAR THERAPY (2006)
The lysosomal-mitochondrial axis theory of postmitotic aging and cell death
Alexei Terman et al.
CHEMICO-BIOLOGICAL INTERACTIONS (2006)
A retrospective, multinational, multicenter study on the natural history of infantile-onset Pompe disease
Priya S. Kishnani et al.
JOURNAL OF PEDIATRICS (2006)
Glycogen autophagy in glucose homeostasis
O. B. Kotoulas et al.
PATHOLOGY RESEARCH AND PRACTICE (2006)
Oxidative stress, accumulation of biological 'garbage', and aging
A Terman et al.
ANTIOXIDANTS & REDOX SIGNALING (2006)
Delayed or late-onset type II glycogenosis with globular inclusions
MC Sharma et al.
ACTA NEUROPATHOLOGICA (2005)
Effects of non-contractile inclusions on mechanical performance of skeletal muscle
MR Drost et al.
JOURNAL OF BIOMECHANICS (2005)
Lysosomal acid α-glucosidase consists of four different peptides processed from a single chain precursor
RJ Moreland et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2005)
Replacing acid alpha-glucosidase in Pompe disease: Recombinant and transgenic enzymes are equipotent, but neither completely clears glycogen from type II muscle fibers
N Raben et al.
MOLECULAR THERAPY (2005)
Abnormal cardiac development in the absence of heart glycogen
BA Pederson et al.
MOLECULAR AND CELLULAR BIOLOGY (2004)
Improved efficacy of gene therapy approaches for Pompe disease using a new, immune-deficient GSD-II mouse model
F Xu et al.
GENE THERAPY (2004)
Long term intravenous treatment of Pompe disease with recombinant human α-glucosidase from milk
JMP Van den Hout et al.
PEDIATRICS (2004)
The natural course of infantile Pompe's disease: 20 original cases compared with 133 cases from the literature
HMP van den Hout et al.
PEDIATRICS (2003)
Lysosomal dysfunction in muscle with special reference to glycogen storage disease type II
RP Hesselink et al.
BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE (2003)
Lipofuscin: Mechanisms of age-related accumulation and influence on cell function
UT Brunk et al.
FREE RADICAL BIOLOGY AND MEDICINE (2002)
Transcriptional co-activator PGC-1α drives the formation of slow-twitch muscle fibres
J Lin et al.
NATURE (2002)
LC3, a mammalian homologue of yeast Apg8p, is localized in autophagosome membranes after processing
Y Kabeya et al.
EMBO JOURNAL (2000)
Identification of two subtypes of infantile acid maltase deficiency
AE Slonim et al.
JOURNAL OF PEDIATRICS (2000)
Regulated secretion of conventional lysosomes
NW Andrews
TRENDS IN CELL BIOLOGY (2000)
Share Paper
