The juvenile Batten disease protein, CLN3, and its role in regulating anterograde and retrograde post-Golgi trafficking

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

The atypical 16p11.2 deletion: A not so atypical microdeletion syndrome?

(2011) Daniela Q.C.M. Barge-Schaapveld et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

SNARE Proteins Are Required for Macroautophagy

(2011) Usha Nair et al.   CELL

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

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

Altered sensitivity of cerebellar granule cells to glutamate receptor overactivation in the Cln3Δex7/8-knock-in mouse model of juvenile neuronal ceroid lipofuscinosis

(2011) Rozzy Finn et al.   NEUROCHEMISTRY INTERNATIONAL

Cardiac involvement in juvenile neuronal ceroid lipofuscinosis (Batten disease)

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

Distinct Early Molecular Responses to Mutations Causing vLINCL and JNCL Presage ATP Synthase Subunit C Accumulation in Cerebellar Cells

(2011) Yi Cao et al.   PLoS One

Interactions of the proteins of neuronal ceroid lipofuscinosis: clues to function

(2010) Amanda L. Getty et al.   CELLULAR AND MOLECULAR LIFE SCIENCES

pH-dependent localization of Btn1p in the yeast model for Batten disease

(2010) D. M. Wolfe et al.   Disease Models & Mechanisms

A novel interaction of CLN3 with nonmuscle myosin-IIB and defects in cell motility of Cln3−/− cells

(2010) Amanda L. Getty et al.   EXPERIMENTAL CELL RESEARCH

Network organization of the human autophagy system

(2010) Christian Behrends et al.   NATURE

Novel interactions of CLN5 support molecular networking between Neuronal Ceroid Lipofuscinosis proteins

(2009) Annina Lyly et al.   BMC CELL BIOLOGY

Towards understanding the neuronal ceroid lipofuscinoses

(2009) Alfried Kohlschütter et al.   BRAIN & DEVELOPMENT

Protracted course of juvenile ceroid lipofuscinosis associated with a novelCLN3mutation (p.Y199X)

(2009) A Sarpong et al.   CLINICAL GENETICS

Autophagy in the fission yeast Schizosaccharomyces pombe

(2009) Hiroyuki Mukaiyama et al.   FEBS LETTERS

S. pombe btn1, the orthologue of the Batten disease gene CLN3, is required for vacuole protein sorting of Cpy1p and Golgi exit of Vps10p

(2009) S. Codlin et al.   JOURNAL OF CELL SCIENCE

A 30-year Follow-Up of a Neuronal Ceroid Lipofuscinosis Patient With Mutations in CLN3 and Protracted Disease Course

(2009) Laura Åberg et al.   PEDIATRIC NEUROLOGY

Neuronal ceroid lipofuscinoses

(2008) Anu Jalanko et al.   BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR CELL RESEARCH

Analysis of NCL Proteins from an Evolutionary Standpoint

(2008) Neda Muzaffar et al.   CURRENT GENOMICS

Novel interactions of CLN3 protein link Batten disease to dysregulation of fodrin–Na+, K+ ATPase complex

(2008) Kristiina Uusi-Rauva et al.   EXPERIMENTAL CELL RESEARCH

The transmembrane topology of Batten disease protein CLN3 determined by consensus computational prediction constrained by experimental data

(2008) Timothy Nugent et al.   FEBS LETTERS

Transcript and in silico analysis of CLN3 in juvenile neuronal ceroid lipofuscinosis and associated mouse models

(2008) C.-H. Chan et al.   HUMAN MOLECULAR GENETICS

btn1 affects cytokinesis and cell-wall deposition by independent mechanisms, one of which is linked to dysregulation of vacuole pH

(2008) S. Codlin et al.   JOURNAL OF CELL SCIENCE

Developmental impairments of select neurotransmitter systems in brains ofCln3Δex7/8 knock-in mice, an animal model of juvenile neuronal ceroid lipofuscinosis

(2008) Philipp Herrmann et al.   JOURNAL OF NEUROSCIENCE RESEARCH

Exiting the Golgi complex

(2008) Maria Antonietta De Matteis et al.   NATURE REVIEWS MOLECULAR CELL BIOLOGY

Depalmitoylation of Ykt6 Prevents its Entry into the Multivesicular Body Pathway

(2008) Christoph T. A. Meiringer et al.   TRAFFIC

Loss of the Batten Disease Gene CLN3 Prevents Exit from the TGN of the Mannose 6-Phosphate Receptor

(2008) Daniel J Metcalf et al.   TRAFFIC

Intermediate levels of neuronal palmitoyl-protein Δ-9 desaturase in heterozygotes for murine Batten disease

(2007) Srinivas B. Narayan et al.   MOLECULAR GENETICS AND METABOLISM

Identification of α-fetoprotein as an autoantigen in juvenile Batten disease

(2007) Julian A. Castaneda et al.   NEUROBIOLOGY OF DISEASE