Moving towards a new era of genomics in the neuronal ceroid lipofuscinoses.
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TLDR
The current understanding of the thirteen identified NCL genes and the proteins they encode is summarized, touching upon the spectrum of clinical manifestations linked to each of the genes, and recent progress leading to a broader understanding of key pathways involved in NCL disease pathogenesis and commonalities with other neurodegenerative diseases are highlighted.About:
This article is published in Biochimica et Biophysica Acta.The article was published on 2020-09-01 and is currently open access. It has received 39 citations till now. The article focuses on the topics: Batten disease & Neuronal ceroid lipofuscinosis.read more
Citations
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Current Clinical Applications of In Vivo Gene Therapy with AAVs.
Jerry R. Mendell,Jerry R. Mendell,Samiah Al-Zaidy,Louise R. Rodino-Klapac,Kimberly Goodspeed,Steven J. Gray,Christine N. Kay,Sanford L. Boye,Shannon E. Boye,Lindsey A. George,Stephanie Salabarria,Manuela Corti,Barry J. Byrne,Jacques P. Tremblay +13 more
TL;DR: This review is limited to gene therapy using adeno-associated virus (AAV) because the gene delivered by this vector does not integrate into the patient genome and has a low immunogenicity.
Journal Article
Excessive burden of lysosomal storage disorder gene variants in Parkinson’s disease (S1.001)
Laurie Robak,Iris E. Jansen,Jeroen van Rooij,André G. Uitterlinden,Robert Kraaj,Peter Heutink,Joshua M. Shulman +6 more
TL;DR: In this paper, the aggregate burden of variants in lysosomal storage disorder (LSD) genes besides GBA are associated with Parkinson's disease (PD) susceptibility, and the associated genes have yet to be systematically evaluated for contribution to PD risk.
Journal ArticleDOI
Impairment of Lysosome Function and Autophagy in Rare Neurodegenerative Diseases.
TL;DR: Using a repertoire of selected rare neurodegenerative diseases, it is highlighted that a variety of alterations of the autophagy–lysosome pathway are associated with neuronal death.
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CLN3 is required for the clearance of glycerophosphodiesters from lysosomes
Nouf N. Laqtom,Wentao Dong,Uche Medoh,Andrew L. Cangelosi,Vimisha Dharamdasani,Sze Ham Chan,Tenzin Kunchok,Caroline A. Lewis,Ivonne Heinze,Rachel Tang,Christian Grimm,An N. Dang Do,Forbes D. Porter,Alessandro Ori,David M. Sabatini,Monther Abu-Remaileh +15 more
TL;DR: The LysoTag mouse is developed for the tissue-specific isolation of intact lysosomes that are compatible with the multimodal profiling of their contents and results reveal Batten disease as a neurodegenerative LSD with a defect in glycerophospholipid metabolism.
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Sex- and region-biased depletion of microglia/macrophages attenuates CLN1 disease in mice
TL;DR: A detrimental impact of innate immune reactions in the CNS of CLN1 mice is demonstrated and this findings provide insights into CLN pathogenesis and may guide in the design of immunomodulatory treatment strategies.
References
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Hereditary parkinsonism with dementia is caused by mutations in ATP13A2, encoding a lysosomal type 5 P-type ATPase.
Alfredo Ramirez,André Heimbach,Jan Gründemann,Barbara Stiller,Daniel J. Hampshire,L. Pablo Cid,Ingrid Goebel,Ammar F. Mubaidin,Abdul-Latif Wriekat,Jochen Roeper,Amir S. Najim Al-Din,Axel M. Hillmer,Meliha Karsak,Birgit Liss,C. Geoffrey Woods,Maria I. Behrens,Christian Kubisch +16 more
TL;DR: Loss-of-function mutations in a previously uncharacterized, predominantly neuronal P-type ATPase gene, ATP13A2, underlying an autosomal recessive form of early-onset parkinsonism with pyramidal degeneration and dementia are described.
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Palmitoylation: policing protein stability and traffic
TL;DR: Recent studies that have provided insights into the mechanisms that mediate the functional consequences of palmitate are reviewed.
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Mutations in the palmitoyl protein thioesterase gene causing infantile neuronal ceroid lipofuscinosis
Jouni Vesa,Hellsten E,Linda A. Verkruyse,Laura A. Camp,Juhani Rapola,Pirkko Santavuori,Sandra L. Hofmann,Leena Peltonen +7 more
TL;DR: The identification, by positional candidate methods, of defects in the palmitoyl-protein thioesterase gene in all 42 Finnish INCL patients and several non-Finnish patients is reported, which results in intracellular accumulation of the polypeptide and undetectable enzyme activity in the brain of patients.
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Isolation of a novel gene underlying batten disease, CLN3
Terry J. Lerner,Rose-Mary Boustany,John W. Anderson,K. L. D'arigo,Karen Schlumpf,Alan Buckler,James F. Gusella,Jonathan L. Haines +7 more
TL;DR: Two separate deletions and a point mutation altering a splice site in three unrelated families have confirmed the candidate gene that is disrupted by a 1 kb genomic deletion in all patients carrying the 56 chromosome as the CLN3 gene.
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Association of Mutations in a Lysosomal Protein with Classical Late-Infantile Neuronal Ceroid Lipofuscinosis
David E. Sleat,Robert J. Donnelly,Henry Lackland,Henry Lackland,Chang Gong Liu,Istvan Sohar,Istvan Sohar,Raju K. Pullarkat,Peter Lobel,Peter Lobel +9 more
TL;DR: In this paper, the mannose 6-phosphate modification of newly synthesized lysosomal enzymes was used as an affinity marker, and a single protein was identified that is absent in LINCL.