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

The relevance of the storage of subunit c of ATP synthase in different forms and models of Batten disease (NCLs)

(2015) David N. Palmer   BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE

Towards a new understanding of NCL pathogenesis

(2015) Jonathan D. Cooper et al.   BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE

Human NCL Neuropathology

(2015) Josefine Radke et al.   BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE

A rare homozygous MFSD8 single-base-pair deletion and frameshift in the whole genome sequence of a Chinese Crested dog with neuronal ceroid lipofuscinosis

(2015) Juyuan Guo et al.   BMC Veterinary Research

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

Mutations in MFSD8, Encoding a Lysosomal Membrane Protein, Are Associated with Nonsyndromic Autosomal Recessive Macular Dystrophy

(2015) Susanne Roosing et al.   OPHTHALMOLOGY

Autophagy in neuronal cells: general principles and physiological and pathological functions

(2014) Markus Damme et al.   ACTA NEUROPATHOLOGICA

Common pathobiochemical hallmarks of progranulin-associated frontotemporal lobar degeneration and neuronal ceroid lipofuscinosis

(2014) Julia K. Götzl et al.   ACTA NEUROPATHOLOGICA

Ataxia is the major neuropathological finding in arylsulfatase G-deficient mice: similarities and dissimilarities to Sanfilippo disease (mucopolysaccharidosis type III)

(2014) Björn Kowalewski et al.   HUMAN MOLECULAR GENETICS

Gene disruption of Mfsd8 in mice provides the first animal model for CLN7 disease

(2014) Markus Damme et al.   NEUROBIOLOGY OF DISEASE

Cell biology and function of neuronal ceroid lipofuscinosis-related proteins

(2013) Katrin Kollmann et al.   BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE

Lysosomal Membrane Permeability Stimulates Protein Aggregate Formation in Neurons of a Lysosomal Disease

(2013) M. C. Micsenyi et al.   JOURNAL OF NEUROSCIENCE

Increased lysosomal biogenesis in activated microglia and exacerbated neuronal damage after traumatic brain injury in progranulin-deficient mice

(2013) Y. Tanaka et al.   NEUROSCIENCE

Autophagy in lysosomal storage disorders

(2012) Andrew P. Lieberman et al.   Autophagy

Lysosomal dysfunction causes neurodegeneration in mucolipidosis II ‘knock-in’ mice

(2012) K. Kollmann et al.   BRAIN

Selective spatiotemporal patterns of glial activation and neuron loss in the sensory thalamocortical pathways of neuronal ceroid lipofuscinosis 8 mice

(2012) Mervi Kuronen et al.   NEUROBIOLOGY OF DISEASE

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

Lysosomes and lysosomal cathepsins in cell death

(2011) Urška Repnik et al.   BIOCHIMICA ET BIOPHYSICA ACTA-PROTEINS AND PROTEOMICS

Update of the mutation spectrum and clinical correlations of over 360 mutations in eight genes that underlie the neuronal ceroid lipofuscinoses

(2011) Maria Kousi et al.   HUMAN MUTATION

A conditional knockout resource for the genome-wide study of mouse gene function

(2011) William C. Skarnes et al.   NATURE

Expression and lysosomal targeting of CLN7, a major facilitator superfamily transporter associated with variant late-infantile neuronal ceroid lipofuscinosis

(2010) A. Sharifi et al.   HUMAN MOLECULAR GENETICS

Altered expression and distribution of cathepsins in neuronopathic forms of Gaucher disease and in other sphingolipidoses

(2010) E. B. Vitner et al.   HUMAN MOLECULAR GENETICS

Common and Uncommon Pathogenic Cascades in Lysosomal Storage Diseases

(2010) Einat B. Vitner et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Increased Activity and Altered Subcellular Distribution of Lysosomal Enzymes Determine Neuronal Vulnerability in Niemann-Pick Type C1-Deficient Mice

(2009) Asha Amritraj et al.   AMERICAN JOURNAL OF PATHOLOGY

Mutations in CLN7/MFSD8 are a common cause of variant late-infantile neuronal ceroid lipofuscinosis

(2009) Maria Kousi et al.   BRAIN

A Gene Network Regulating Lysosomal Biogenesis and Function

(2009) Marco Sardiello et al.   SCIENCE

Accumulation of bis(monoacylglycero)phosphate and gangliosides in mouse models of neuronal ceroid lipofuscinosis

(2008) Sabrina Jabs et al.   JOURNAL OF NEUROCHEMISTRY

Lysosomal membrane permeabilization in cell death

(2008) P Boya et al.   ONCOGENE