Neuronal Ceroid Lipofuscinosis: Impact of Recent Genetic Advances and Expansion of the Clinicopathologic Spectrum

Making the Diagnosis of Frontotemporal Lobar Degeneration

(2013) Eileen H. Bigio   ARCHIVES OF PATHOLOGY & LABORATORY MEDICINE

Cathepsin F mutations cause Type B Kufs disease, an adult-onset neuronal ceroid lipofuscinosis

(2013) K. R. Smith et al.   HUMAN MOLECULAR GENETICS

Molecular epidemiology of childhood neuronal ceroid-lipofuscinosis in Italy

(2013) Filippo Maria Santorelli et al.   Orphanet Journal of Rare Diseases

The genetics and neuropathology of Parkinson’s disease

(2012) Henry Houlden et al.   ACTA NEUROPATHOLOGICA

Genome-wide association study of N370S homozygous Gaucher disease reveals the candidacy of CLN8 gene as a genetic modifier contributing to extreme phenotypic variation

(2012) Clarence K. Zhang et al.   AMERICAN JOURNAL OF HEMATOLOGY

A Homozygous Mutation in KCTD7 Links Neuronal Ceroid Lipofuscinosis to the Ubiquitin-Proteasome System

(2012) John F. Staropoli et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Strikingly Different Clinicopathological Phenotypes Determined by Progranulin-Mutation Dosage

(2012) Katherine R. Smith et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Genetics of dementia: Update and guidelines for the clinician

(2012) Petra E. Cohn-Hokke et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART B-NEUROPSYCHIATRIC GENETICS

An atypical case of neuronal ceroid lipofuscinosis with co-inheritance of a variably penetrant POLG1mutation

(2012) John F Staropoli et al.   BMC Medical Genetics

Mutation of the parkinsonism gene ATP13A2 causes neuronal ceroid-lipofuscinosis

(2012) Jose Bras et al.   HUMAN MOLECULAR GENETICS

Palmitoylation-induced Aggregation of Cysteine-string Protein Mutants That Cause Neuronal Ceroid Lipofuscinosis

(2012) Jennifer Greaves et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Progranulin: A Proteolytically Processed Protein at the Crossroads of Inflammation and Neurodegeneration

(2012) Basar Cenik et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Insights into the role of progranulin in immunity, infection, and inflammation

(2012) J. Jian et al.   JOURNAL OF LEUKOCYTE BIOLOGY

Novel mutations consolidateKCTD7as a progressive myoclonus epilepsy gene

(2012) Maria Kousi et al.   JOURNAL OF MEDICAL GENETICS

The Role of Ceroid Lipofuscinosis Neuronal Protein 5 (CLN5) in Endosomal Sorting

(2012) A. Mamo et al.   MOLECULAR AND CELLULAR BIOLOGY

Mutation of the CLN6 Gene in Teenage-Onset Progressive Myoclonus Epilepsy

(2012) Danielle M. Andrade et al.   PEDIATRIC NEUROLOGY

Mutations in the Gene DNAJC5 Cause Autosomal Dominant Kufs Disease in a Proportion of Cases: Study of the Parry Family and 8 Other Families

(2012) Milen Velinov et al.   PLoS One

Cullin-3 regulates late endosome maturation

(2012) J. Huotari et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Mutations in DNAJC5, Encoding Cysteine-String Protein Alpha, Cause Autosomal-Dominant Adult-Onset Neuronal Ceroid Lipofuscinosis

(2011) Lenka Nosková et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Kufs Disease, the Major Adult Form of Neuronal Ceroid Lipofuscinosis, Caused by Mutations in CLN6

(2011) Todor Arsov et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Involvement of the mitochondrial compartment in human NCL fibroblasts

(2011) Francesco Pezzini et al.   BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS

Recent Insights into the Involvement of Progranulin in Frontotemporal Dementia

(2011) Li Sun et al.   Current Neuropharmacology

Progressive conduction defects and cardiac death in late infantile neuronal ceroid lipofuscinosis

(2011) SHINOBU FUKUMURA et al.   DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY

Pathogenic effects of novel mutations in the P-type ATPase ATP13A2 (PARK9) causing Kufor-Rakeb syndrome, a form of early-onset parkinsonism

(2011) Jin-Sung Park et al.   HUMAN MUTATION

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

The yeast Batten disease orthologue Btn1 controls endosome–Golgi retrograde transport via SNARE assembly

(2011) Rachel Kama et al.   JOURNAL OF CELL BIOLOGY

Late Infantile Neuronal Ceroid Lipofuscinosis and Dopamine Deficiency

(2011) Ngoc Minh D. Le et al.   JOURNAL OF CHILD NEUROLOGY

Progressive Myoclonic Epilepsy-Associated Gene KCTD7 is a Regulator of Potassium Conductance in Neurons

(2011) Régis Azizieh et al.   MOLECULAR NEUROBIOLOGY

ATP13A2 regulates mitochondrial bioenergetics through macroautophagy

(2011) Aaron M. Gusdon et al.   NEUROBIOLOGY OF DISEASE

Synaptic dysfunction in progranulin-deficient mice

(2011) Terri L. Petkau et al.   NEUROBIOLOGY OF DISEASE

Cardiac involvement in juvenile neuronal ceroid lipofuscinosis (Batten disease)

(2011) J. R. Ostergaard et al.   NEUROLOGY

Exome-Sequencing Confirms DNAJC5 Mutations as Cause of Adult Neuronal Ceroid-Lipofuscinosis

(2011) Bruno A. Benitez et al.   PLoS One

A One Base Pair Deletion in the Canine ATP13A2 Gene Causes Exon Skipping and Late-Onset Neuronal Ceroid Lipofuscinosis in the Tibetan Terrier

(2011) Anne Wöhlke et al.   PLoS Genetics

Accelerated Lipofuscinosis and Ubiquitination in Granulin Knockout Mice Suggest a Role for Progranulin in Successful Aging

(2010) Zeshan Ahmed et al.   AMERICAN JOURNAL OF PATHOLOGY

CSPα: the neuroprotective J proteinThis paper is one of a selection of papers published in this special issue entitled “Canadian Society of Biochemistry, Molecular & Cellular Biology 52nd Annual Meeting — Protein Folding: Principles and Diseases” and has undergone the Journal's usual peer review process.

(2010) Jadah N. Johnson et al.   Biochemistry and Cell Biology

Behavioral deficits and progressive neuropathology in progranulin-deficient mice: a mouse model of frontotemporal dementia

(2010) Fangfang Yin et al.   FASEB JOURNAL

Progranulin expression in the developing and adult murine brain

(2010) Terri L. Petkau et al.   JOURNAL OF COMPARATIVE NEUROLOGY

Progressive myoclonic epilepsies: review of clinical, molecular and therapeutic aspects

(2010) Luis Felipe Mendonça Siqueira   JOURNAL OF NEUROLOGY

CSPα promotes SNARE-complex assembly by chaperoning SNAP-25 during synaptic activity

(2010) Manu Sharma et al.   NATURE CELL BIOLOGY

Identifying cellular pathways modulated by Drosophila palmitoyl-protein thioesterase 1 function

(2010) Stephanie Saja et al.   NEUROBIOLOGY OF DISEASE

Sortilin-Mediated Endocytosis Determines Levels of the Frontotemporal Dementia Protein, Progranulin

(2010) Fenghua Hu et al.   NEURON

Cd2+, Mn2+, Ni2+ and Se2+ toxicity to Saccharomyces cerevisiae lacking YPK9p the orthologue of human ATP13A2

(2009) Karyn Schmidt et al.   BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS

Progranulin is expressed within motor neurons and promotes neuronal cell survival

(2009) Cara L Ryan et al.   BMC NEUROSCIENCE

α-Synuclein is part of a diverse and highly conserved interaction network that includes PARK9 and manganese toxicity

(2009) Aaron D Gitler et al.   NATURE GENETICS

Sortilin mediates the lysosomal targeting of cathepsins D and H

(2008) Maryssa Canuel et al.   BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS

Parkin is recruited selectively to impaired mitochondria and promotes their autophagy

(2008) Derek Narendra et al.   JOURNAL OF CELL BIOLOGY

Palmitoyl protein thioesterase-1 deficiency impairs synaptic vesicle recycling at nerve terminals, contributing to neuropathology in humans and mice

(2008) Sung-Jo Kim et al.   JOURNAL OF CLINICAL INVESTIGATION