Lysosomes and the pathogenesis of merosin-deficient congenital muscular dystrophy

Mechanobiology of Autophagy: The Unexplored Side of Cancer

(2021) Maria Paz Hernández-Cáceres et al.   Frontiers in Oncology

Small-molecule activation of lysosomal TRP channels ameliorates Duchenne muscular dystrophy in mouse models

(2020) Lu Yu et al.   Science Advances

Update on Muscular Dystrophies with Focus on Novel Treatments and Biomarkers

(2020) Neil Datta et al.   Current Neurology and Neuroscience Reports

Identification of drug modifiers for RYR1-related myopathy using a multi-species discovery pipeline

(2020) Jonathan R Volpatti et al.   eLife

LAMA2 Neuropathies: Human Findings and Pathomechanisms From Mouse Models

(2020) Stefano Carlo Previtali et al.   Frontiers in Molecular Neuroscience

A Family of Laminin α2 Chain-Deficient Mouse Mutants: Advancing the Research on LAMA2-CMD

(2020) Kinga I. Gawlik et al.   Frontiers in Molecular Neuroscience

Circulating biomarkers in muscular dystrophies: disease and therapy monitoring

(2020) Andrie Koutsoulidou et al.   Molecular Therapy-Methods & Clinical Development

Zebrafish Models of LAMA2-Related Congenital Muscular Dystrophy (MDC1A)

(2020) Lacramioara Fabian et al.   Frontiers in Molecular Neuroscience

Metformin rescues muscle function in BAG3 myofibrillar myopathy models

(2020) Avnika A. Ruparelia et al.   Autophagy

Insights into wild-type dynamin 2 and the consequences of DNM2 mutations from transgenic zebrafish

(2019) Mo Zhao et al.   HUMAN MOLECULAR GENETICS

Muscular dystrophies

(2019) Eugenio Mercuri et al.   LANCET

Lysosomes as dynamic regulators of cell and organismal homeostasis

(2019) Andrea Ballabio et al.   NATURE REVIEWS MOLECULAR CELL BIOLOGY

A promotive effect for halofuginone on membrane repair and synaptotagmin-7 levels in muscle cells of dysferlin-null mice

(2018) Hila Barzilai-Tutsch et al.   HUMAN MOLECULAR GENETICS

Diagnosis and management of Duchenne muscular dystrophy, part 3: primary care, emergency management, psychosocial care, and transitions of care across the lifespan

(2018) David J Birnkrant et al.   LANCET NEUROLOGY

Extracellular matrix-driven congenital muscular dystrophies

(2018) Payam Mohassel et al.   MATRIX BIOLOGY

The nature and biology of basement membranes

(2017) Ambra Pozzi et al.   MATRIX BIOLOGY

Little Fish, Big Data: Zebrafish as a Model for Cardiovascular and Metabolic Disease

(2017) Philipp Gut et al.   PHYSIOLOGICAL REVIEWS

Vps34 PI 3-kinase inactivation enhances insulin sensitivity through reprogramming of mitochondrial metabolism

(2017) Benoit Bilanges et al.   Nature Communications

AAV-mediated transcription factor EB (TFEB) gene delivery ameliorates muscle pathology and function in the murine model of Pompe Disease

(2017) Francesca Gatto et al.   Scientific Reports

Spell Checking Nature: Versatility of CRISPR/Cas9 for Developing Treatments for Inherited Disorders

(2016) Daria Wojtal et al.   AMERICAN JOURNAL OF HUMAN GENETICS

The intricate regulation and complex functions of the Class III phosphoinositide 3-kinase Vps34

(2016) J. M. Backer   BIOCHEMICAL JOURNAL

Analysis of Zebrafish Larvae Skeletal Muscle Integrity with Evans Blue Dye

(2015) Sarah J. Smith et al.   Jove-Journal of Visualized Experiments

Skeletal muscle atrophy and the E3 ubiquitin ligases MuRF1 and MAFbx/atrogin-1

(2014) Sue C. Bodine et al.   AMERICAN JOURNAL OF PHYSIOLOGY-ENDOCRINOLOGY AND METABOLISM

Characterization of VPS34-IN1, a selective inhibitor of Vps34, reveals that the phosphatidylinositol 3-phosphate-binding SGK3 protein kinase is a downstream target of class III phosphoinositide 3-kinase

(2014) Ruzica Bago et al.   BIOCHEMICAL JOURNAL

Ironing out VPS34 inhibition

(2014) Timothy Marsh et al.   NATURE CELL BIOLOGY

Selective VPS34 inhibitor blocks autophagy and uncovers a role for NCOA4 in ferritin degradation and iron homeostasis in vivo

(2014) William E. Dowdle et al.   NATURE CELL BIOLOGY

The intracellular Ca2+ channel MCOLN1 is required for sarcolemma repair to prevent muscular dystrophy

(2014) Xiping Cheng et al.   NATURE MEDICINE

Diagnostic approach to the congenital muscular dystrophies

(2014) Carsten G. Bönnemann et al.   NEUROMUSCULAR DISORDERS

Intracellular two-phase Ca2+ release and apoptosis controlled by TRP-ML1 channel activity in coronary arterial myocytes

(2013) Ming Xu et al.   AMERICAN JOURNAL OF PHYSIOLOGY-CELL PHYSIOLOGY

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

(2013) Carmine Spampanato et al.   EMBO Molecular Medicine

Swimming into prominence: the zebrafish as a valuable tool for studying human myopathies and muscular dystrophies

(2013) Elizabeth M. Gibbs et al.   FEBS Journal

Protein breakdown in muscle wasting: Role of autophagy-lysosome and ubiquitin-proteasome

(2013) Marco Sandri   INTERNATIONAL JOURNAL OF BIOCHEMISTRY & CELL BIOLOGY

Misregulation of autophagy and protein degradation systems in myopathies and muscular dystrophies

(2013) M. Sandri et al.   JOURNAL OF CELL SCIENCE

Muscular dystrophies

(2013) Eugenio Mercuri et al.   LANCET

Photochemical activation of TRPA1 channels in neurons and animals

(2013) David Kokel et al.   Nature Chemical Biology

Laminin-211 in skeletal muscle function

(2013) Johan Holmberg et al.   Cell Adhesion & Migration

The ever-expanding spectrum of congenital muscular dystrophies

(2012) Eugenio Mercuri et al.   ANNALS OF NEUROLOGY

Cellular and molecular mechanisms of muscle atrophy

(2012) P. Bonaldo et al.   Disease Models & Mechanisms

Epistatic dissection of laminin-receptor interactions in dystrophic zebrafish muscle

(2012) T. E. Sztal et al.   HUMAN MOLECULAR GENETICS

A Splice Site Mutation in Laminin-α2 Results in a Severe Muscular Dystrophy and Growth Abnormalities in Zebrafish

(2012) Vandana A. Gupta et al.   PLoS One

Class III PI3K Vps34 plays an essential role in autophagy and in heart and liver function

(2012) N. Jaber et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Lipid storage disorders block lysosomal trafficking by inhibiting a TRP channel and lysosomal calcium release

(2012) Dongbiao Shen et al.   Nature Communications

Autophagy induction rescues muscular dystrophy

(2011) Paolo Grumati et al.   Autophagy

Selective autophagy mediated by autophagic adapter proteins

(2011) Terje Johansen et al.   Autophagy

Autophagy in Lysosomal Myopathies

(2011) May Christine V. Malicdan et al.   BRAIN PATHOLOGY

Autophagy is increased in laminin α2 chain-deficient muscle and its inhibition improves muscle morphology in a mouse model of MDC1A

(2011) Virginie Carmignac et al.   HUMAN MOLECULAR GENETICS

Cell-matrix interactions in muscle disease

(2011) Virginie Carmignac et al.   JOURNAL OF PATHOLOGY

The transient receptor potential family of ion channels

(2011) Bernd Nilius et al.   GENOME BIOLOGY

Therapeutic Potential of Proteasome Inhibition in Duchenne and Becker Muscular Dystrophies

(2010) Elisabetta Gazzerro et al.   AMERICAN JOURNAL OF PATHOLOGY

Dysfunction of Mitochondria and Sarcoplasmic Reticulum in the Pathogenesis of Collagen VI Muscular Dystrophies

(2010) Paolo Bernardi et al.   Annals of the New York Academy of Sciences

Autophagy in skeletal muscle

(2010) Marco Sandri   FEBS LETTERS

Proteasome inhibition improves the muscle of laminin α2 chain-deficient mice

(2010) Virginie Carmignac et al.   HUMAN MOLECULAR GENETICS

Dual Role of 3-Methyladenine in Modulation of Autophagy via Different Temporal Patterns of Inhibition on Class I and III Phosphoinositide 3-Kinase

(2010) You-Tong Wu et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Omigapil Ameliorates the Pathology of Muscle Dystrophy Caused by Laminin- 2 Deficiency

(2009) M. Erb et al.   JOURNAL OF PHARMACOLOGY AND EXPERIMENTAL THERAPEUTICS

Basal lamina strengthens cell membrane integrity via the laminin G domain-binding motif of  -dystroglycan

(2009) R. Han et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

A Gene Network Regulating Lysosomal Biogenesis and Function

(2009) Marco Sardiello et al.   SCIENCE

Pathology is alleviated by doxycycline in a laminin-α2-null model of congenital muscular dystrophy

(2008) Mahasweta Girgenrath et al.   ANNALS OF NEUROLOGY

Extracellular matrix regulation of autophagy

(2008) Rebecca Lock et al.   CURRENT OPINION IN CELL BIOLOGY

Effect of calpain and proteasome inhibition on Ca2+-dependent proteolysis and muscle histopathology in the mdx mouse

(2008) Alexandre Briguet et al.   FASEB JOURNAL

The Itinerary of Autophagosomes: From Peripheral Formation to Kiss-and-Run Fusion with Lysosomes

(2008) Luca Jahreiss et al.   TRAFFIC

Induction of Autophagy during Extracellular Matrix Detachment Promotes Cell Survival

(2007) Christopher Fung et al.   MOLECULAR BIOLOGY OF THE CELL