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Neuronal Ceroid Lipofuscinoses

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Experimental gene therapies for the NCLs.

Wenfei Liu, Sophia-Martha Kleine-Holthaus, Saul Herranz-Martin, Mikel Aristorena, Sara E Mole, Alexander J Smith, Robin R Ali, Ahad A Rahim,

The neuronal ceroid lipofuscinoses (NCLs), also known as Batten disease, are a group of rare monogenic neurodegenerative diseases predominantly affecting children. All NCLs are lethal and incurable and only one has an approved treatment available. To date, 13 NCL subtypes (CLN1-8, CLN10-14) have been identified, based on the particular disease-causing ... Read more >>

Biochim Biophys Acta Mol Basis Dis (Biochimica et biophysica acta. Molecular basis of disease)
[2020, :165772]

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Implications of graded reductions in CLN6's anti-aggregate activity for the development of the neuronal ceroid lipofuscinoses.

Arisa Yamashita, Yuki Shiro, Yuri Hiraki, Takatoshi Yujiri, Tetsuo Yamazaki,

CLN6, spanning the endoplasmic reticulum membrane, is a protein of unknown function. Mutations in the CLN6 gene are linked to an autosomal recessively inherited disorder termed CLN6 disease, classified as a form of the neuronal ceroid lipofuscinoses (NCL). The pathogenesis of CLN6 disease remains poorly understood due to a lack ... Read more >>

Biochem. Biophys. Res. Commun. (Biochemical and biophysical research communications)
[2020, :]

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Neuronal ceroid lipofuscinoses type 8: Expanding genotype/phenotype diversity-first report from Saudi Arabia.

Fatimah Z Alkhars, Ahmed Y Bo Ali, Mostafa A Almohanna, Nabil A Almajhad,

Neuronal ceroid lipofuscinoses (NCLs) are the most common group of neurodegenerative diseases that presents in childhood and are characterized by seizures and progressive neurological deterioration, which results in dementia, ataxia, visual failure, and various forms of abnormal movement. The most common form of neuronal ceroid lipofuscinoses is late infantile (LI-NCL), ... Read more >>

Neurosciences (Riyadh) (Neurosciences (Riyadh, Saudi Arabia))
[2020, 25(1):65-69]

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Mfsd8 localizes to endocytic compartments and influences the secretion of Cln5 and cathepsin D in Dictyostelium.

Robert J Huber, Sabateeshan Mathavarajah, Shyong Quan Yap,

The neuronal ceroid lipofuscinoses (NCLs) are a family of neurodegenerative diseases that affect people of all ages and ethnicities, yet many of the associated genes/proteins are not well characterized. Mutations in MFSD8 (major facilitator superfamily domain-containing 8) cause an infantile form of NCL referred to as CLN7 disease. In this ... Read more >>

Cell. Signal. (Cellular signalling)
[2020, 70:109572]

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

Katja Rietdorf, Emily E Coode, Angela Schulz, Eva Wibbeler, Martin D Bootman, John R Ostergaard,

The neuronal ceroid lipofuscinoses (NCLs) are mostly seen as diseases affecting the central nervous system, but there is accumulating evidence that they have co-morbidities outside the brain. One of these co-morbidities is a decline in cardiac function. This is becoming increasingly recognised in teenagers and adolescents with juvenile CLN3, but ... Read more >>

Biochim Biophys Acta Mol Basis Dis (Biochimica et biophysica acta. Molecular basis of disease)
[2019, :165643]

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Small Molecules that Rescue Multiple Phenotypic Aberrations in an iPSC-Derived Neuron Model of CLN3 Disease

Nihar Kinarivala, Ahmed Morsy, Ronak Patel, Angelica Carmona, Md. Sanaullah Sajib, Snehal Raut, Constantinos M. Mikelis, Abraham Al-Ahmad, Paul Trippier,

<div> <div> <div> <p>The neuronal ceroid lipofuscinoses (NCLs) commonly referred to as Batten disease are a family of rare lysosomal storage disorders (LSDs). The most common form of NCL occurs in children harboring a mutation in the CLN3 gene. This form is lethal with no existing cure ... Read more >>

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Autosomal-dominant adult neuronal ceroid lipofuscinosis caused by duplication in DNAJC5 initially missed by Sanger and whole-exome sequencing.

Ivana Jedličková, Maxime Cadieux-Dion, Anna Přistoupilová, Viktor Stránecký, Hana Hartmannová, Kateřina Hodaňová, Veronika Barešová, Helena Hůlková, Jakub Sikora, Lenka Nosková, Dita Mušálková, Petr Vyleťal, Jana Sovová, Patrick Cossette, Eva Andermann, Frederick Andermann, Stanislav Kmoch, ,

Adult-onset neuronal ceroid lipofuscinoses (ANCL, Kufs disease) are rare hereditary neuropsychiatric disorders characterized by intralysosomal accumulation of ceroid in tissues. The ceroid accumulation primarily affects the brain, leading to neuronal loss and progressive neurodegeneration. Although several causative genes have been identified (DNAJC5, CLN6, CTSF, GRN, CLN1, CLN5, ATP13A2), the genetic ... Read more >>

Eur. J. Hum. Genet. (European journal of human genetics : EJHG)
[2020, :]

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Pathomechanisms in the neuronal ceroid lipofuscinoses.

Hemanth R Nelvagal, Jenny Lange, Keigo Takahashi, Marta A Tarczyluk-Wells, Jonathan D Cooper,

The neuronal ceroid lipofuscinoses (NCLs) are a group of inherited neurodegenerative lysosomal storage disorders (LSDs), traditionally grouped together based on shared clinical symptoms. The recent emergence of new forms of NCL along with an improved understanding of endo-lysosomal system function have necessitated the reassessment of their classification and pathogenesis. Novel ... Read more >>

Biochim Biophys Acta Mol Basis Dis (Biochimica et biophysica acta. Molecular basis of disease)
[2019, :165570]

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Moving towards a new era of genomics in the neuronal ceroid lipofuscinoses.

Elisabeth S Butz, Uma Chandrachud, Sara E Mole, Susan L Cotman,

The neuronal ceroid lipofuscinoses (NCL) are a group of disorders defined by shared clinical and pathological features, including seizures and progressive decline in vision, neurocognition, and motor functioning, as well as accumulation of autofluorescent lysosomal storage material, or 'ceroid lipofuscin'. Research has revealed thirteen distinct genetic subtypes. Precisely how the ... Read more >>

Biochim Biophys Acta Mol Basis Dis (Biochimica et biophysica acta. Molecular basis of disease)
[2019, :165571]

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Future perspectives: What lies ahead for Neuronal Ceroid Lipofuscinosis research?

Jonathan D Cooper, Sara E Mole,

Progress is being made in all aspects of Neuronal Ceroid Lipofuscinosis (NCL) research, resulting in many recent advances. These advances encompass several areas that were previously thought intractable, ranging from basic science, through to a better understanding of the clinical presentation of different forms of NCL, therapeutic development, and new ... Read more >>

Biochim Biophys Acta Mol Basis Dis (Biochimica et biophysica acta. Molecular basis of disease)
[2020, :165681]

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

Sophia-Martha Kleine Holthaus, Saul Herranz-Martin, Giulia Massaro, Mikel Aristorena, Justin Hoke, Michael P Hughes, Ryea Maswood, Olha Semenyuk, Mark Basche, Amna Z Shah, Izabela P Klaska, Alexander J Smith, Sara E Mole, Ahad A Rahim, Robin R Ali,

The neuronal ceroid lipofuscinoses (NCLs), more commonly referred to as Batten disease, are a group of inherited lysosomal storage disorders that present with neurodegeneration, loss of vision and premature death. There are at least 13 genetically distinct forms of NCL. Enzyme replacement therapies and pre-clinical studies on gene supplementation have ... Read more >>

Hum. Mol. Genet. (Human molecular genetics)
[2019, 28(23):3867-3879]

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Lysosomal protein thermal stability does not correlate with cellular half-life: global observations and a case study of tripeptidyl-peptidase 1.

Aaron M Collier, Yuliya Nemtsova, Narendra Kuber, Whitney Banach-Petrosky, Anurag Modak, David E Sleat, Vikas Nanda, Peter Lobel,

Late-infantile neuronal ceroid lipofuscinosis (LINCL) is a neurodegenerative lysosomal storage disorder caused by mutations in the gene encoding the protease tripeptidyl-peptidase 1 (TPP1). Progression of LINCL can be slowed or halted by enzyme replacement therapy, where recombinant human TPP1 is administered to patients. In this study, we utilized protein engineering ... Read more >>

Biochem. J. (The Biochemical journal)
[2020, 477(3):727-745]

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Pharmacological approaches to tackle NCLs.

Valerjans Kauss, Maija Dambrova, Diego Luis Medina,

Neuronal ceroid lipofuscinoses, also collectively known as Batten disease, are a group of rare monogenic disorders caused by mutations in at least 13 different genes. They are characterized by the accumulation of lysosomal storage material and progressive neurological deterioration with dementia, epilepsy, retinopathy, motor disturbances, and early death [1]. Although ... Read more >>

Biochim Biophys Acta Mol Basis Dis (Biochimica et biophysica acta. Molecular basis of disease)
[2019, :165553]

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Cellular models of Batten disease.

Christopher J Minnis, Christopher D Thornton, Lorna M FitzPatrick, Tristan R McKay,

The Neuronal Ceroid Lipofuscinoses (NCL), otherwise known as Batten disease, are a group of neurodegenerative diseases caused by mutations in 13 known genes. All except one NCL is autosomal recessive in inheritance, with similar aetiology and characterised by the accumulation of autofluorescent storage material in the lysosomes of cells. Age ... Read more >>

Biochim Biophys Acta Mol Basis Dis (Biochimica et biophysica acta. Molecular basis of disease)
[2019, :165559]

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Paediatric-onset neuronal ceroid lipofuscinosis: first symptoms and presentation at diagnosis.

Blandine Dozières-Puyravel, Hala Nasser, Monique Elmaleh-Bergès, Elisa Lopez Hernandez, Antoinette Gelot, Adina Ilea, Catherine Delanoë, Jean-Philippe Puech, Catherine Caillaud, Samia Pichard, Stéphane Auvin,

Neuronal ceroid lipofuscinoses (NCLs) are rare, progressive disorders. Through this series of 20 patients with NCL, we illustrate differences between subtypes in their presenting symptoms and clinical, imaging, and electrophysiological results to raise awareness of symptom diversity. Data were available on presenting symptoms, genetics, magnetic resonance imaging (MRI), electroencephalography (including ... Read more >>

Dev Med Child Neurol (Developmental medicine and child neurology)
[2020, 62(4):528-530]

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Gene-Based Approaches to Inherited Neurometabolic Diseases.

Valentina Poletti, Alessandra Biffi,

In the last decade, the gene therapy (GT) field experienced a renaissance, thanks to crucial understandings and innovations in vector design, stem cell manipulation, conditioning protocols, and cell/vector delivery. These efforts were successfully coupled with unprecedented clinical results of the trials employing the newly developed technology and with the novel ... Read more >>

Hum. Gene Ther. (Human gene therapy)
[2019, 30(10):1222-1235]

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Outcomes of Umbilical Cord Blood Transplantation in Children with Batten Disease.

Jennifer Brondon, Kristin Page, Veronika Polishchuk, Timothy Driscoll, Suhag Parikh, Paul L. Martin, Joanne Kurtzberg, Vinod K. Prasad,

Stem Cells Transl Med (Stem cells translational medicine)
[2019, 8(Suppl Suppl 1):S12-S12]

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Topological Alterations of the Structural Brain Connectivity Network in Children with Juvenile Neuronal Ceroid Lipofuscinosis.

T Roine, U Roine, A Tokola, M H Balk, M Mannerkoski, L Åberg, T Lönnqvist, T Autti,

BACKGROUND AND PURPOSE:We used diffusion MR imaging to investigate the structural brain connectivity networks in juvenile neuronal ceroid lipofuscinosis, a neurodegenerative lysosomal storage disease of childhood. Although changes in conventional MR imaging are typically not visually apparent in children aged <10 years, we previously found significant microstructural abnormalities by using ... Read more >>

AJNR Am J Neuroradiol (AJNR. American journal of neuroradiology)
[2019, 40(12):2146-2153]

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Analysis of Brain and Cerebrospinal Fluid from Mouse Models of the Three Major Forms of Neuronal Ceroid Lipofuscinosis Reveals Changes in the Lysosomal Proteome.

David E Sleat, Jennifer A Wiseman, Mukarram El-Banna, Haiyan Zheng, Caifeng Zhao, Amenah Soherwardy, Dirk F Moore, Peter Lobel,

Treatments are emerging for the neuronal ceroid lipofuscinoses (NCLs), a group of similar but genetically distinct lysosomal storage diseases. Clinical ratings scales measure long-term disease progression and response to treatment but clinically useful biomarkers have yet to be identified in these diseases. We have conducted proteomic analyses of brain and ... Read more >>

Mol. Cell Proteomics (Molecular & cellular proteomics : MCP)
[2019, 18(11):2244-2261]

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Applying modern Omic technologies to the Neuronal Ceroid Lipofuscinoses.

Rachel A Kline, Thomas M Wishart, Kevin Mills, Wendy E Heywood,

The Neuronal Ceroid Lipofuscinoses are a group of severe and progressive neurodegenerative disorders, which generally present during childhood. With new treatments emerging on the horizon, there is a growing need to understand the specific disease mechanisms as well as identify prospective biomarkers for use to stratify patients and monitor treatment. ... Read more >>

Biochim Biophys Acta Mol Basis Dis (Biochimica et biophysica acta. Molecular basis of disease)
[2019, :165498]

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A major facilitator superfamily domain 8 frameshift variant in a cat with suspected neuronal ceroid lipofuscinosis.

Julien Guevar, Petra Hug, Felix Giebels, Alexane Durand, Vidhya Jagannathan, Tosso Leeb,

A 2-year-old male domestic shorthair cat was presented for a progressive history of abnormal posture, behavior, and mentation. Menace response was absent bilaterally, and generalized tremors were identified on neurological examination. A neuroanatomical diagnosis of diffuse brain dysfunction was made. A neurodegenerative disorder was suspected. Magnetic resonance imaging findings further ... Read more >>

J. Vet. Intern. Med. (Journal of veterinary internal medicine)
[2020, 34(1):289-293]

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High diagnostic yield of direct Sanger sequencing in the diagnosis of neuronal ceroid lipofuscinoses.

Abdulhakim Jilani, Diana Matviychuk, Susan Blaser, Sarah Dyack, Jean Mathieu, Asuri N Prasad, Chitra Prasad, Lianna Kyriakopoulou, Saadet Mercimek-Andrews,

Background:Neuronal ceroid lipofuscinoses are neurodegenerative disorders. To investigate the diagnostic yield of direct Sanger sequencing of the CLN genes, we reviewed Molecular Genetics Laboratory Database for molecular genetic test results of the CLN genes from a single clinical molecular diagnostic laboratory. Methods:We reviewed electronic patient charts. We used consent forms ... Read more >>

JIMD Rep (JIMD reports)
[2019, 50(1):20-30]

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Exogenous Galactosylceramide as Potential Treatment for CLN3 Disease.

Sally El-Sitt, Jihane Soueid, Katia Maalouf, Nadine Makhoul, Jamal Al Ali, Joelle Makoukji, Bilal Asser, Daniel Daou, Hayat Harati, Rose-Mary Boustany,

OBJECTIVE:CLN3 disease is the commonest of the neuronal ceroid lipofuscinoses, a group of pediatric neurodegenerative disorders. Functions of the CLN3 protein include antiapoptotic properties and facilitating anterograde transport of galactosylceramide from Golgi to lipid rafts. This study confirms the beneficial effects of long-term exogenous galactosylceramide supplementation on longevity, neurobehavioral parameters, ... Read more >>

Ann. Neurol. (Annals of neurology)
[2019, 86(5):729-742]

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Perampanel attenuates myoclonus in a patient with neuronal ceroid lipofuscinoses type 2 disease.

Lee Chin Wong, Chia-Jui Hsu, Wang-Tso Lee,

Neuronal ceroid lipofuscinoses type 2 disease (CLN2) is a very rare, autosomal recessive neurodegerative disease caused by deficient activity of the enzyme tripeptidyl peptidase 1 (TPP1). The seizures in CLN2 are polymorphic and resistant to antiepileptic drugs. In particular, myoclonus (epileptic and non-epileptic) predominant as the disease progresses. Herein, we ... Read more >>

Brain Dev. (Brain & development)
[2019, 41(9):817-819]

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[Genetic study of a family of neuronal ceroid lipofuscinosis caused by a heterozygous mutation of CLN6 gene].

Tie Lou, Yingzhi Huang, Minyue Dong,

OBJECTIVE:To analyze the genetic cause of a family with autosomal recessive neuronal ceroid lipofuscinoses (NCL). METHODS:The proband was screened for mutations within the coding region of the candidate genes through high-throughput targeted sequencing. Potential causative mutations were verified by PCR and Sanger sequencing in the proband and his parents. RT-PCR ... Read more >>

Zhejiang Da Xue Xue Bao Yi Xue Ban (Zhejiang da xue xue bao. Yi xue ban = Journal of Zhejiang University. Medical sciences)
[2019, 48(4):373-377]

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