On the cusp of cures: Breakthroughs in Batten disease research

Electrophysiological Profile Remodeling via Selective Suppression of Voltage-Gated Currents by CLN1/PPT1 Overexpression in Human Neuronal-Like Cells

(2021) Gian Carlo Demontis et al.   Frontiers in Cellular Neuroscience

Preclinical results in rodents strongly support clinical evaluation of scAAV9/ as a potential gene therapy for CLN7 patients

(2021) Xin Chen et al.   MOLECULAR GENETICS AND METABOLISM

Cathepsin D Variants Associated With Neurodegenerative Diseases Show Dysregulated Functionality and Modified α-Synuclein Degradation Properties

(2021) Josina Bunk et al.   Frontiers in Cell and Developmental Biology

GFAP hyperpalmitoylation exacerbates astrogliosis and neurodegenerative pathology in PPT1-deficient mice

(2021) Wei Yuan et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

CLN5 and CLN3 function as a complex to regulate endolysosome function

(2021) Seda Yasa et al.   BIOCHEMICAL JOURNAL

ATP13A2 deficiency disrupts lysosomal polyamine export

(2020) Sarah van Veen et al.   NATURE

Cln1 ‐mutations suppress Rab7‐RILP interaction and impair autophagy contributing to neuropathology in a mouse model of infantile neuronal ceroid lipofuscinosis

(2020) Chinmoy Sarkar et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Therapeutic efficacy of antisense oligonucleotides in mouse models of CLN3 Batten disease

(2020) Jessica L. Centa et al.   NATURE MEDICINE

AAV9 Gene Therapy Increases Lifespan and Treats Pathological and Behavioral Abnormalities in a Mouse Model of CLN8-Batten Disease

(2020) Tyler B. Johnson et al.   MOLECULAR THERAPY

Cerliponase Alfa for the Treatment of Atypical Phenotypes of CLN2 Disease: A Retrospective Case Series

(2020) Eva Wibbeler et al.   JOURNAL OF CHILD NEUROLOGY

An altered secretome is an early marker of the pathogenesis of CLN6 Batten disease

(2020) Hannah L. Best et al.   JOURNAL OF NEUROCHEMISTRY

Slowing late infantile Batten disease by direct brain parenchymal administration of a rh.10 adeno-associated virus expressing CLN2

(2020) Dolan Sondhi et al.   Science Translational Medicine

Autophagy–lysosome pathway alterations and alpha-synuclein up-regulation in the subtype of neuronal ceroid lipofuscinosis, CLN5 disease

(2019) Jessie Adams et al.   Scientific Reports

The Interactome of Palmitoyl-Protein Thioesterase 1 (PPT1) Affects Neuronal Morphology and Function

(2019) Tamar Sapir et al.   Frontiers in Cellular Neuroscience

Therapeutic landscape for Batten disease: current treatments and future prospects

(2019) Tyler B. Johnson et al.   Nature Reviews Neurology

Progranulin Stimulates the In Vitro Maturation of Pro-Cathepsin D at Acidic pH

(2019) Victoria J. Butler et al.   JOURNAL OF MOLECULAR BIOLOGY

Current and Emerging Treatment Strategies for Neuronal Ceroid Lipofuscinoses

(2019) Alfried Kohlschütter et al.   CNS DRUGS

Lysosomal proteome analysis reveals that CLN3-defective cells have multiple enzyme deficiencies associated with changes in intracellular trafficking

(2019) Carolin Schmidtke et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Cln3 ‐mutations underlying juvenile neuronal ceroid lipofuscinosis cause significantly reduced levels of Palmitoyl‐protein thioesterases‐1 (Ppt1)‐protein and Ppt1‐enzyme activity in the lysosome

(2019) Abhilash P. Appu et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Loss of postnatal quiescence of neural stem cells through mTOR activation upon genetic removal of cysteine string protein-α

(2019) Jose L. Nieto-González et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Developmental NMDA receptor dysregulation in the infantile neuronal ceroid lipofuscinosis mouse model

(2019) Kevin P Koster et al.   eLife

Loss of Cln5 leads to altered Gad1 expression and deficits in interneuron development in mice

(2019) Yajuvinder Singh et al.   HUMAN MOLECULAR GENETICS

Gene Therapy Corrects Brain and Behavioral Pathologies in CLN6-Batten Disease

(2019) Jacob T. Cain et al.   MOLECULAR THERAPY

Neonatal brain-directed gene therapy rescues a mouse model of neurodegenerative CLN6 Batten disease

(2019) Sophia-Martha kleine Holthaus et al.   HUMAN MOLECULAR GENETICS

A High-Content Screen Identifies TPP1 and Aurora B as Regulators of Axonal Mitochondrial Transport

(2019) Evgeny Shlevkov et al.   Cell Reports

Patient-Customized Oligonucleotide Therapy for a Rare Genetic Disease

(2019) Jinkuk Kim et al.   NEW ENGLAND JOURNAL OF MEDICINE

The neuronal ceroid lipofuscinosis protein Cln7 functions in the postsynaptic cell to regulate synapse development

(2019) Kyle J. Connolly et al.   Scientific Reports

Cardiac pathology in neuronal ceroid lipofuscinoses (NCL): More than a mere co-morbidity

(2019) Katja Rietdorf et al.   BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE

Loss of CLN7 results in depletion of soluble lysosomal proteins and impaired mTOR reactivation

(2018) Tatyana Danyukova et al.   HUMAN MOLECULAR GENETICS

Astrocytes in Juvenile Neuronal Ceroid Lipofuscinosis (CLN3) display metabolic and calcium signaling abnormalities

(2018) Megan E. Bosch et al.   JOURNAL OF NEUROCHEMISTRY

Combination dosing of CLN1 gene therapy extends lifespan in a mouse model of infantile neuronal ceroid lipofuscinosis

(2018) Alejandra J. Rozenberg et al.   MOLECULAR GENETICS AND METABOLISM

Longitudinal in vivo monitoring of CNS demonstrates the efficacy of gene therapy in a sheep model of CLN5 Batten disease

(2018) Nadia L. Mitchell et al.   MOLECULAR THERAPY

Study of Intraventricular Cerliponase Alfa for CLN2 Disease

(2018) Angela Schulz et al.   NEW ENGLAND JOURNAL OF MEDICINE

DNAJC5 facilitates USP19-dependent unconventional secretion of misfolded cytosolic proteins

(2018) Yue Xu et al.   Cell Discovery

Paroxysmal sympathetic hyperactivity in Juvenile neuronal ceroid lipofuscinosis (Batten disease)

(2018) John R. Ostergaard   AUTONOMIC NEUROSCIENCE-BASIC & CLINICAL

Compromised astrocyte function and survival negatively impact neurons in infantile neuronal ceroid lipofuscinosis

(2018) Jenny Lange et al.   Acta Neuropathologica Communications

KCTD7 deficiency defines a distinct neurodegenerative disorder with a conserved autophagy-lysosome defect

(2018) Kyle A. Metz et al.   ANNALS OF NEUROLOGY

A newly generated neuronal cell model of CLN7 disease reveals aberrant lysosome motility and impaired cell survival

(2018) Lisa von Kleist et al.   MOLECULAR GENETICS AND METABOLISM

AAV-Mediated Progranulin Delivery to a Mouse Model of Progranulin Deficiency Causes T Cell-Mediated Toxicity

(2018) Defne A. Amado et al.   MOLECULAR THERAPY

CLN8 is an endoplasmic reticulum cargo receptor that regulates lysosome biogenesis

(2018) Alberto di Ronza et al.   NATURE CELL BIOLOGY

Neuronal ceroid lipofuscinosis related ER membrane protein CLN8 regulates PP2A activity and ceramide levels

(2018) Babita Adhikari et al.   BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE

Extraneuronal pathology in a canine model of CLN2 neuronal ceroid lipofuscinosis after intracerebroventricular gene therapy that delays neurological disease progression

(2017) M L Katz et al.   GENE THERAPY

Gene Therapy of Adult Neuronal Ceroid Lipofuscinoses with CRISPR/Cas9 in Zebrafish

(2017) Xiaomin Yao et al.   HUMAN GENE THERAPY

Selective depletion of microglial progranulin in mice is not sufficient to cause neuronal ceroid lipofuscinosis or neuroinflammation

(2017) Terri L. Petkau et al.   Journal of Neuroinflammation

Fingolimod and Teriflunomide Attenuate Neurodegeneration in Mouse Models of Neuronal Ceroid Lipofuscinosis

(2017) Janos Groh et al.   MOLECULAR THERAPY

Age-dependent alterations in neuronal activity in the hippocampus and visual cortex in a mouse model of Juvenile Neuronal Ceroid Lipofuscinosis (CLN3)

(2017) Maria Burkovetskaya et al.   NEUROBIOLOGY OF DISEASE

Conditional loss of progranulin in neurons is not sufficient to cause neuronal ceroid lipofuscinosis-like neuropathology in mice

(2017) Terri L. Petkau et al.   NEUROBIOLOGY OF DISEASE

Synergistic effects of treating the spinal cord and brain in CLN1 disease

(2017) Charles Shyng et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Impaired prosaposin lysosomal trafficking in frontotemporal lobar degeneration due to progranulin mutations

(2017) Xiaolai Zhou et al.   Nature Communications

mTORC1-independent TFEB activation via Akt inhibition promotes cellular clearance in neurodegenerative storage diseases

(2017) Michela Palmieri et al.   Nature Communications

Defective synaptic transmission causes disease signs in a mouse model of juvenile neuronal ceroid lipofuscinosis

(2017) Benedikt Grünewald et al.   eLife

The Networks of Genes Encoding Palmitoylated Proteins in Axonal and Synaptic Compartments Are Affected in PPT1 Overexpressing Neuronal-Like Cells

(2017) Francesco Pezzini et al.   Frontiers in Molecular Neuroscience

Glial cells are functionally impaired in juvenile neuronal ceroid lipofuscinosis and detrimental to neurons

(2017) Lotta Parviainen et al.   Acta Neuropathologica Communications

Self-Complementary AAV9 Gene Delivery Partially Corrects Pathology Associated with Juvenile Neuronal Ceroid Lipofuscinosis (CLN3)

(2016) M. E. Bosch et al.   JOURNAL OF NEUROSCIENCE

362. Translatable Gene Therapy for Infantile Neuronal Lipofuscinosis

(2016) Alejandra J. Rozenberg et al.   MOLECULAR THERAPY

Neuronal ceroid lipofuscinosis with DNAJC5/CSPα mutation has PPT1 pathology and exhibit aberrant protein palmitoylation

(2015) Michael X. Henderson et al.   ACTA NEUROPATHOLOGICA

Activation of Peroxisome Proliferator-activated Receptor α Induces Lysosomal Biogenesis in Brain Cells

(2015) Arunava Ghosh et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Tissue-specific variation in nonsense mutant transcript level and drug-induced read-through efficiency in the Cln1 R151X mouse model of INCL

(2015) Vaughn Thada et al.   JOURNAL OF CELLULAR AND MOLECULAR MEDICINE

AAV gene transfer delays disease onset in a TPP1-deficient canine model of the late infantile form of Batten disease

(2015) Martin L. Katz et al.   Science Translational Medicine

The novel Cln1R151X mouse model of infantile neuronal ceroid lipofuscinosis (INCL) for testing nonsense suppression therapy

(2014) Jake N. Miller et al.   HUMAN MOLECULAR GENETICS

An RNA-Sequencing Transcriptome and Splicing Database of Glia, Neurons, and Vascular Cells of the Cerebral Cortex

(2014) Y. Zhang et al.   JOURNAL OF NEUROSCIENCE

Microglia in juvenile neuronal ceroid lipofuscinosis are primed toward a pro-inflammatory phenotype

(2013) Juan Xiong et al.   JOURNAL OF NEUROCHEMISTRY

CNS-Expressed Cathepsin D Prevents Lymphopenia in a Murine Model of Congenital Neuronal Ceroid Lipofuscinosis

(2010) Zinayida Shevtsova et al.   AMERICAN JOURNAL OF PATHOLOGY