Axonopathy and Reduction of Membrane Resistance: Key Features in a New Murine Model of Human GM1-Gangliosidosis

Isolation and Quantification of Sphingosine and Sphinganine from Rat Serum Revealed Gender Differences

(2019) Graham Brogden et al.   Biomolecules

Dynamic changes and molecular analysis of cell death in the spinal cord of SJL mice infected with the BeAn strain of Theiler’s murine encephalomyelitis virus

(2018) Ingo Gerhauser et al.   APOPTOSIS

Comprehensive behavioral and biochemical outcomes of novel murine models of GM1-gangliosidosis and Morquio syndrome type B

(2018) Michael J. Przybilla et al.   MOLECULAR GENETICS AND METABOLISM

Synaptophysin Is a Reliable Marker for Axonal Damage

(2017) Viktoria Gudi et al.   JOURNAL OF NEUROPATHOLOGY AND EXPERIMENTAL NEUROLOGY

The treatment of juvenile/adult GM1-gangliosidosis with Miglustat may reverse disease progression

(2017) Federica Deodato et al.   METABOLIC BRAIN DISEASE

Novel Biomarkers of Human GM1 Gangliosidosis Reflect the Clinical Efficacy of Gene Therapy in a Feline Model

(2017) Heather L. Gray-Edwards et al.   MOLECULAR THERAPY

Lipidomic Evaluation of Feline Neurologic Disease after AAV Gene Therapy

(2017) Heather L. Gray-Edwards et al.   Molecular Therapy-Methods & Clinical Development

Canine dorsal root ganglia satellite glial cells represent an exceptional cell population with astrocytic and oligodendrocytic properties

(2017) W. Tongtako et al.   Scientific Reports

Alterations in membrane trafficking and pathophysiological implications in lysosomal storage disorders

(2016) Eva-Maria Kuech et al.   BIOCHIMIE

GM1 gangliosidosis in a Japanese domestic cat: a new variant identified in Hokkaido, Japan

(2016) Hiroshi UENO et al.   JOURNAL OF VETERINARY MEDICAL SCIENCE

Enzyme replacement for GM1-gangliosidosis: Uptake, lysosomal activation, and cellular disease correction using a novel β-galactosidase:RTB lectin fusion

(2016) Jose Condori et al.   MOLECULAR GENETICS AND METABOLISM

The Dynamic Localization of Cytoplasmic Dynein in Neurons Is Driven by Kinesin-1

(2016) Alison E. Twelvetrees et al.   NEURON

Immunolabelling of non-phosphorylated neurofilament indicates damage of spinal cord axons in TSE-infected goats

(2016) M. Nadeem et al.   VETERINARY RECORD

Immunohistochemical and transcriptome analyses indicate complex breakdown of axonal transport mechanisms in canine distemper leukoencephalitis

(2016) Ingo Spitzbarth et al.   Brain and Behavior

Myelin Abnormalities in the Optic and Sciatic Nerves in Mice With GM1-Gangliosidosis

(2015) Karie A. Heinecke et al.   ASN Neuro

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

Recurrent and novel GLB1 mutations in India

(2015) Abdul Mueed Bidchol et al.   GENE

Systemic AAV9 gene transfer in adult GM1 gangliosidosis mice reduces lysosomal storage in CNS and extends lifespan

(2015) Cara M. Weismann et al.   HUMAN MOLECULAR GENETICS

Development and modulation of intrinsic membrane properties control the temporal precision of auditory brain stem neurons

(2015) Delwen L. Franzen et al.   JOURNAL OF NEUROPHYSIOLOGY

Defining and measuring autophagosome flux—concept and reality

(2014) Ben Loos et al.   Autophagy

GM1-gangliosidosis in American black bears: Clinical, pathological, biochemical and molecular genetic characterization

(2014) Sureshkumar Muthupalani et al.   MOLECULAR GENETICS AND METABOLISM

Axonal Transport: Cargo-Specific Mechanisms of Motility and Regulation

(2014) Sandra Maday et al.   NEURON

Phospholipid Synthesis and Transport in Mammalian Cells

(2014) Jean E. Vance   TRAFFIC

New Aspects of the Pathogenesis of Canine Distemper Leukoencephalitis

(2014) Charlotte Lempp et al.   Viruses-Basel

Molecular epidemiology of canine GM1 gangliosidosis in the Shiba Inu breed in Japan: relationship between regional prevalence and carrier frequency

(2013) Mohammad M Uddin et al.   BMC Veterinary Research

Chaperone therapy update: Fabry disease, GM1-gangliosidosis and Gaucher disease

(2013) Yoshiyuki Suzuki   BRAIN & DEVELOPMENT

Gangliosides and Gangliosidoses: Principles of Molecular and Metabolic Pathogenesis

(2013) K. Sandhoff et al.   JOURNAL OF NEUROSCIENCE

Skin Punch Biopsy Explant Culture for Derivation of Primary Human Fibroblasts

(2013) Malini Vangipuram et al.   Jove-Journal of Visualized Experiments

Spatio-Temporal Development of Axonopathy in Canine Intervertebral Disc Disease as a Translational Large Animal Model for Nonexperimental Spinal Cord Injury

(2012) Patricia Bock et al.   BRAIN PATHOLOGY

Four novel mutations in the β-galactosidase gene identified in infantile type of GM1 gangliosidosis

(2012) Başak Çeltikçi et al.   CLINICAL BIOCHEMISTRY

Periventricular Demyelination and Axonal Pathology Is Associated with Subependymal Virus Spread in a Murine Model for Multiple Sclerosis

(2012) Maren Kummerfeld et al.   INTERVIROLOGY

Mutation analysis of GM1 gangliosidosis in a Siamese cat from Japan in the 1960s

(2012) Mohammad M Uddin et al.   JOURNAL OF FELINE MEDICINE AND SURGERY

Interleukin-10 expression during the acute phase is a putative prerequisite for delayed viral elimination in a murine model for multiple sclerosis

(2012) Vanessa Herder et al.   JOURNAL OF NEUROIMMUNOLOGY

Identification of Bangladeshi Domestic Cats with GM1 Gangliosidosis Caused by the c.1448G^|^gt;C Mutation of the Feline GLB1 Gene: Case Study

(2012) Mohammad Mejbah UDDIN et al.   JOURNAL OF VETERINARY MEDICAL SCIENCE

Exome sequencing as a diagnostic tool in a case of undiagnosed juvenile-onset GM1-gangliosidosis

(2012) T. M. Pierson et al.   NEUROLOGY

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

(2012) Andreas Herzog et al.   Orphanet Journal of Rare Diseases

Beta-galactosidase deficiencies and novel GLB1 mutations in three Chinese patients with Morquio B disease or GM1 gangliosidosis

(2012) Hong-Lin Lei et al.   World Journal of Pediatrics

GM1 gangliosidosis and Morquio B disease: An update on genetic alterations and clinical findings

(2011) Anna Caciotti et al.   BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE

Axonopathy Is Associated with Complex Axonal Transport Defects in a Model of Multiple Sclerosis

(2011) Mihaela Kreutzer et al.   BRAIN PATHOLOGY

APP physiological and pathophysiological functions: insights from animal models

(2011) Qinxi Guo et al.   CELL RESEARCH

Lysosomal multienzymatic complex-related diseases: a genetic study among Portuguese patients

(2011) MF Coutinho et al.   CLINICAL GENETICS

Late postnatal development of intrinsic and synaptic properties promotes fast and precise signaling in the dorsal nucleus of the lateral lemniscus

(2011) J. J. Ammer et al.   JOURNAL OF NEUROPHYSIOLOGY

An autopsy case of infantile GM1 gangliosidosis with adrenal calcification

(2011) Ritambhra Nada et al.   METABOLIC BRAIN DISEASE

AAV-Mediated Gene Delivery in Adult GM1-Gangliosidosis Mice Corrects Lysosomal Storage in CNS and Improves Survival

(2010) Rena C. Baek et al.   PLoS One

Impact of β-galactosidase mutations on the expression of the canine lysosomal multienzyme complex

(2009) Robert Kreutzer et al.   BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE

Axonal Pathology and Loss Precede Demyelination and Accompany Chronic Lesions in a Spontaneously Occurring Animal Model of Multiple Sclerosis

(2009) Frauke Seehusen et al.   BRAIN PATHOLOGY

Quantification of the three-dimensional morphology of coincidence detector neurons in the medial superior olive of gerbils during late postnatal development

(2009) Philipp L. Rautenberg et al.   JOURNAL OF COMPARATIVE NEUROLOGY

Generation and characterization of a polyclonal antibody for the detection of Theiler's murine encephalomyelitis virus by light and electron microscopy

(2009) Maren Kummerfeld et al.   JOURNAL OF VIROLOGICAL METHODS

GM1-Ganglioside Accumulation at the Mitochondria-Associated ER Membranes Links ER Stress to Ca2+-Dependent Mitochondrial Apoptosis

(2009) Renata Sano et al.   MOLECULAR CELL

Kinesin superfamily motor proteins and intracellular transport

(2009) Nobutaka Hirokawa et al.   NATURE REVIEWS MOLECULAR CELL BIOLOGY

Oligodendrocyte Development and Myelin Biogenesis: Parsing Out the Roles of Glycosphingolipids

(2009) Nicole Jackman et al.   PHYSIOLOGY

Enhanced autophagy and mitochondrial aberrations in murine GM1-gangliosidosis

(2008) Ayumi Takamura et al.   BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS

Insights into post-translational processing of β-galactosidase in an animal model resembling late infantile human GM1-gangliosidosis

(2008) R. Kreutzer et al.   JOURNAL OF CELLULAR AND MOLECULAR MEDICINE

GM1 gangliosidosis: Review of clinical, molecular, and therapeutic aspects

(2008) Nicola Brunetti-Pierri et al.   MOLECULAR GENETICS AND METABOLISM

Intracellular Transport and Kinesin Superfamily Proteins, KIFs: Structure, Function, and Dynamics

(2008) Nobutaka Hirokawa et al.   PHYSIOLOGICAL REVIEWS