Pathogenesis, emerging therapeutic targets and treatment in sialidosis

Neuroinflammation, mitochondrial defects and neurodegeneration in mucopolysaccharidosis III type C mouse model

(2015) Carla Martins et al.   BRAIN

NEU1 Mutation in a Korean Infant with Type 2 Sialidosis Presenting as Isolated Fetal Ascites

(2015) Yeoun-Joo Lee et al.   Pediatrics and Neonatology

Clinical and Serial MRI Findings of a Sialidosis Type I Patient with a Novel Missense Mutation in the NEU1 Gene

(2014) Yoshiki Sekijima et al.   INTERNAL MEDICINE

Lysosomal exocytosis and lipid storage disorders

(2014) Mohammad Ali Samie et al.   JOURNAL OF LIPID RESEARCH

A recurrent de novo mutation in KCNC1 causes progressive myoclonus epilepsy

(2014) Mikko Muona et al.   NATURE GENETICS

Expanding sialidosis spectrum by genome-wide screening: NEU1 mutations in adult-onset myoclonus

(2014) L. Canafoglia et al.   NEUROLOGY

Structural Basis for Substrate Specificity of Mammalian Neuraminidases

(2014) Victoria Smutova et al.   PLoS One

The Biogenesis of Lysosomes and Lysosome-Related Organelles

(2014) J. P. Luzio et al.   Cold Spring Harbor Perspectives in Biology

Chaperone-mediated gene therapy with recombinant AAV-PPCA in a new mouse model of type I sialidosis

(2013) Erik J. Bonten et al.   BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE

Histological, biochemical, and genetic characterization of early-onset fulminating sialidosis type 2 in a Korean neonate with hydrops fetalis

(2013) Beom Hee Lee et al.   BRAIN & DEVELOPMENT

Lysosomal multienzyme complex: pros and cons of working together

(2013) Erik J. Bonten et al.   CELLULAR AND MOLECULAR LIFE SCIENCES

Positive Regulation of Insulin Signaling by Neuraminidase 1

(2013) L. Dridi et al.   DIABETES

Lysosomal Membrane Proteins and Their Central Role in Physiology

(2013) Michael Schwake et al.   TRAFFIC

Lysosomal NEU1 deficiency affects amyloid precursor protein levels and amyloid-β secretion via deregulated lysosomal exocytosis

(2013) Ida Annunziata et al.   Nature Communications

Mammalian sialidases: Physiological and pathological roles in cellular functions

(2012) T. Miyagi et al.   GLYCOBIOLOGY

Lysosomal Dysfunction in a Mouse Model of Sandhoff Disease Leads to Accumulation of Ganglioside-Bound Amyloid-  Peptide

(2012) S. Keilani et al.   JOURNAL OF NEUROSCIENCE

Strabismus in Craniosynostosis

(2012) Jamie B. Rosenberg et al.   JOURNAL OF PEDIATRIC OPHTHALMOLOGY & STRABISMUS

The link between the GBA gene and parkinsonism

(2012) Ellen Sidransky et al.   LANCET NEUROLOGY

New Insights on the Sialidase Protein Family Revealed by a Phylogenetic Analysis in Metazoa

(2012) Edoardo Giacopuzzi et al.   PLoS One

Preclinical Dose-Finding Study With a Liver-Tropic, Recombinant AAV-2/8 Vector in the Mouse Model of Galactosialidosis

(2011) Huimin Hu et al.   MOLECULAR THERAPY

Defects in the Medial Entorhinal Cortex and Dentate Gyrus in the Mouse Model of Sanfilippo Syndrome Type B

(2011) Kazuhiro Ohmi et al.   PLoS One

Molecular mechanisms of pathogenesis in a glycosphingolipid and a glycoprotein storage disease

(2010) Alessandra d'Azzo et al.   BIOCHEMICAL SOCIETY TRANSACTIONS

Muscle degeneration in neuraminidase 1-deficient mice results from infiltration of the muscle fibers by expanded connective tissue

(2010) Edmar Zanoteli et al.   BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE

The immunological synapse: a focal point for endocytosis and exocytosis

(2010) Gillian M. Griffiths et al.   JOURNAL OF CELL BIOLOGY

Pathophysiology of neuropathic lysosomal storage disorders

(2010) Cinzia Maria Bellettato et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Vacuolization and alterations of lysosomal membrane proteins in cochlear marginal cells contribute to hearing loss in neuraminidase 1-deficient mice

(2009) Xudong Wu et al.   BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE

Regulation of Phagocytosis in Macrophages by Neuraminidase 1

(2009) Volkan Seyrantepe et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Heterodimerization of the Sialidase NEU1 with the Chaperone Protective Protein/Cathepsin A Prevents Its Premature Oligomerization

(2009) Erik J. Bonten et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Type II sialidosis: review of the clinical spectrum and identification of a new splicing defect with chitotriosidase assessment in two patients

(2009) A. Caciotti et al.   JOURNAL OF NEUROLOGY

Sanfilippo syndrome type B, a lysosomal storage disease, is also a tauopathy

(2009) K. Ohmi et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Enzymatic Activity of Lysosomal Carboxypeptidase (Cathepsin) A Is Required for Proper Elastic Fiber Formation and Inactivation of Endothelin-1

(2008) Volkan Seyrantepe et al.   CIRCULATION

Abnormal cortical excitability with preserved brainstem and spinal reflexes in sialidosis type I

(2008) Ying-Zu Huang et al.   CLINICAL NEUROPHYSIOLOGY

Neuraminidase 1 Is a Negative Regulator of Lysosomal Exocytosis

(2008) Gouri Yogalingam et al.   DEVELOPMENTAL CELL