Enzyme replacement therapy with recombinant pro-CTSD (cathepsin D) corrects defective proteolysis and autophagy in neuronal ceroid lipofuscinosis

Enzyme replacement therapy with velmanase alfa (human recombinant alpha-mannosidase): Novel global treatment response model and outcomes in patients with alpha-mannosidosis

(2018) Paul Harmatz et al.   MOLECULAR GENETICS AND METABOLISM

Caldendrin Directly Couples Postsynaptic Calcium Signals to Actin Remodeling in Dendritic Spines

(2018) Marina Mikhaylova et al.   NEURON

Study of Intraventricular Cerliponase Alfa for CLN2 Disease

(2018) Angela Schulz et al.   NEW ENGLAND JOURNAL OF MEDICINE

Dysregulation of autophagy as a common mechanism in lysosomal storage diseases

(2017) Elena Seranova et al.   Essays in Biochemistry

Inherited diseases caused by mutations in cathepsin protease genes

(2017) Stephanie Ketterer et al.   FEBS Journal

Retinal Degeneration In A Mouse Model Of CLN5 Disease Is Associated With Compromised Autophagy

(2017) Henri Leinonen et al.   Scientific Reports

Neuroectoderm-specific deletion of cathepsin D in mice models human inherited neuronal ceroid lipofuscinosis type 10

(2016) Anett Ketscher et al.   BIOCHIMIE

The Role of Cathepsin D in the Pathogenesis of Human Neurodegenerative Disorders

(2016) Chiara Vidoni et al.   MEDICINAL RESEARCH REVIEWS

Lysosomal Storage Diseases: From Pathophysiology to Therapy

(2015) Giancarlo Parenti et al.   Annual Review of Medicine

Cln1gene disruption in mice reveals a common pathogenic link between two of the most lethal childhood neurodegenerative lysosomal storage disorders

(2015) Goutam Chandra et al.   HUMAN MOLECULAR GENETICS

Lysosomal dysfunction and impaired autophagy in a novel mouse model deficient for the lysosomal membrane protein Cln7

(2015) Laura Brandenstein et al.   HUMAN MOLECULAR GENETICS

Lrp1/LDL Receptor Play Critical Roles in Mannose 6-Phosphate-Independent Lysosomal Enzyme Targeting

(2015) Sandra Markmann et al.   TRAFFIC

Alterations in ROS Activity and Lysosomal pH Account for Distinct Patterns of Macroautophagy in LINCL and JNCL Fibroblasts

(2013) José Manuel Vidal-Donet et al.   PLoS One

Genetically Modified Neural Stem Cells for a Local and Sustained Delivery of Neuroprotective Factors to the Dystrophic Mouse Retina

(2013) Gila Jung et al.   Stem Cells Translational Medicine

Disruption of the Autophagy-Lysosome Pathway Is Involved in Neuropathology of the nclf Mouse Model of Neuronal Ceroid Lipofuscinosis

(2012) Melanie Thelen et al.   PLoS One

CNS-Expressed Cathepsin D Prevents Lymphopenia in a Murine Model of Congenital Neuronal Ceroid Lipofuscinosis

(2010) Zinayida Shevtsova et al.   AMERICAN JOURNAL OF PATHOLOGY

Variant late infantile ceroid lipofuscinoses associated with novel mutations in CLN6

(2009) Natalia Cannelli et al.   BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS

Synaptic Changes in the Thalamocortical System of Cathepsin D-Deficient Mice

(2009) Sanna Partanen et al.   JOURNAL OF NEUROPATHOLOGY AND EXPERIMENTAL NEUROLOGY

Autophagy: A lysosomal degradation pathway with a central role in health and disease

(2008) Eeva-Liisa Eskelinen et al.   BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR CELL RESEARCH

Neuronal ceroid lipofuscinoses

(2008) Anu Jalanko et al.   BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR CELL RESEARCH

Reversal of peripheral and central neural storage and ataxia after recombinant enzyme replacement therapy in α-mannosidosis mice

(2008) Judith Blanz et al.   HUMAN MOLECULAR GENETICS