An iPSC-based neural model of sialidosis uncovers glycolytic impairment-causing presynaptic dysfunction and deregulation of Ca2+ dynamics

Biomarkers and clinical rating scales for sodium pyruvate therapy in patients with mitochondrial disease

(2019) Yasutoshi Koga et al.   MITOCHONDRION

Mutations in the Neuronal Vesicular SNARE VAMP2 Affect Synaptic Membrane Fusion and Impair Human Neurodevelopment

(2019) Vincenzo Salpietro et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Impaired cortico-striatal excitatory transmission triggers epilepsy

(2019) Hiroyuki Miyamoto et al.   Nature Communications

Presynaptic Dysfunction in Neurons Derived from Tay–Sachs iPSCs

(2019) Kozo Matsushita et al.   NEUROSCIENCE

Retrospective study of perampanel efficacy and tolerability in myoclonic seizures

(2018) F. J. Gil-López et al.   ACTA NEUROLOGICA SCANDINAVICA

Selective Inhibitors of Human Neuraminidase 3

(2018) Tianlin Guo et al.   JOURNAL OF MEDICINAL CHEMISTRY

Keeping it trim: roles of neuraminidases in CNS function

(2018) Alexey V. Pshezhetsky et al.   GLYCOCONJUGATE JOURNAL

Synaptic dysfunction in neurodegenerative and neurodevelopmental diseases: an overview of induced pluripotent stem-cell-based disease models

(2018) Era Taoufik et al.   Open Biology

Selective Inhibitors of Human Neuraminidase 1 (NEU1)

(2018) Tianlin Guo et al.   JOURNAL OF MEDICINAL CHEMISTRY

Neuraminidases 3 and 4 regulate neuronal function by catabolizing brain gangliosides

(2017) Xuefang Pan et al.   FASEB JOURNAL

Differential Presynaptic ATP Supply for Basal and High-Demand Transmission

(2017) Courtney Sobieski et al.   JOURNAL OF NEUROSCIENCE

Lysosomal dysfunction disrupts presynaptic maintenance and restoration of presynaptic function prevents neurodegeneration in lysosomal storage diseases

(2016) Irene Sambri et al.   EMBO Molecular Medicine

New Insights into Molecular Organization of Human Neuraminidase-1: Transmembrane Topology and Dimerization Ability

(2016) Pascal Maurice et al.   Scientific Reports

Biochemical and molecular characterization of novel mutations in GLB1 and NEU1 in patient cells with lysosomal storage disorders

(2015) Jae Eun Kwak et al.   BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS

HPGCD Outperforms HPBCD as a Potential Treatment for Niemann-Pick Disease Type C During Disease Modeling with iPS Cells

(2015) Minami Soga et al.   STEM CELLS

Pathogenesis, emerging therapeutic targets and treatment in sialidosis

(2015) Alessandra D’Azzo et al.   Expert Opinion on Orphan Drugs

Activity-Driven Local ATP Synthesis Is Required for Synaptic Function

(2014) Vidhya Rangaraju et al.   CELL

Mutations in STX1B, encoding a presynaptic protein, cause fever-associated epilepsy syndromes

(2014) Julian Schubert et al.   NATURE GENETICS

Mutant SNAP25B causes myasthenia, cortical hyperexcitability, ataxia, and intellectual disability

(2014) X.-M. Shen et al.   NEUROLOGY

Syntaxin 1B, but Not Syntaxin 1A, Is Necessary for the Regulation of Synaptic Vesicle Exocytosis and of the Readily Releasable Pool at Central Synapses

(2014) Tatsuya Mishima et al.   PLoS One

New Type of Sendai Virus Vector Provides Transgene-Free iPS Cells Derived from Chimpanzee Blood

(2014) Yasumitsu Fujie et al.   PLoS One

AMPA receptors as a molecular target in epilepsy therapy

(2013) M. A. Rogawski   ACTA NEUROLOGICA SCANDINAVICA

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

Insulin enhances metabolic capacities of cancer cells by dual regulation of glycolytic enzyme pyruvate kinase M2

(2013) Mohd Iqbal et al.   Molecular Cancer

Autophagy in lysosomal storage disorders

(2012) Andrew P. Lieberman et al.   Autophagy

Investigation of the freely available easy-to-use software ‘EZR’ for medical statistics

(2012) Y Kanda   BONE MARROW TRANSPLANTATION

Where catabolism meets signalling: neuraminidase 1 as a modulator of cell receptors

(2011) Alexey V. Pshezhetsky et al.   GLYCOCONJUGATE JOURNAL

A more efficient method to generate integration-free human iPS cells

(2011) Keisuke Okita et al.   NATURE METHODS

AMPA induced Ca2+ influx in motor neurons occurs through voltage gated Ca2+ channel and Ca2+ permeable AMPA receptor

(2011) Dinesh C. Joshi et al.   NEUROCHEMISTRY INTERNATIONAL

Neu1 sialidase and matrix metalloproteinase-9 cross-talk is essential for neurotrophin activation of Trk receptors and cellular signaling

(2010) Preethi Jayanth et al.   CELLULAR SIGNALLING

Desialylation of insulin receptors and IGF-1 receptors by neuraminidase-1 controls the net proliferative response of L6 myoblasts to insulin

(2010) M. Arabkhari et al.   GLYCOBIOLOGY

A method and server for predicting damaging missense mutations

(2010) Ivan A Adzhubei et al.   NATURE METHODS

Sialidosis type I carrying V217M/G243R mutations in lysosomal sialidase: an autopsy study demonstrating terminal sialic acid in lysosomal lamellar inclusions and cerebellar dysplasia

(2009) Toshiki Uchihara et al.   ACTA NEUROPATHOLOGICA

Dependence of pathogen molecule-induced Toll-like receptor activation and cell function on Neu1 sialidase

(2009) Schammim Ray Amith et al.   GLYCOCONJUGATE JOURNAL

Regulation of Phagocytosis in Macrophages by Neuraminidase 1

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

Contribution of sialidase NEU1 to suppression of metastasis of human colon cancer cells through desialylation of integrin β4

(2009) T Uemura et al.   ONCOGENE

Neuraminidase-1, a Subunit of the Cell Surface Elastin Receptor, Desialylates and Functionally Inactivates Adjacent Receptors Interacting with the Mitogenic Growth Factors PDGF-BB and IGF-2

(2008) Aleksander Hinek et al.   AMERICAN JOURNAL OF PATHOLOGY

De novo mutations in the gene encoding STXBP1 (MUNC18-1) cause early infantile epileptic encephalopathy

(2008) Hirotomo Saitsu et al.   NATURE GENETICS