Literature DB >> 27072142

Early infantile neuronal ceroid lipofuscinosis (CLN10 disease) associated with a novel mutation in CTSD.

Stefano Doccini1, Stefano Sartori2, Stefan Maeser3, Francesco Pezzini4, Sara Rossato2, Francesca Moro1, Irene Toldo2, Michael Przybylski3, Filippo M Santorelli5, Alessandro Simonati6.   

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Year:  2016        PMID： 27072142     DOI： 10.1007/s00415-016-8111-6

Source DB:  PubMed          Journal:  J Neurol        ISSN： 0340-5354            Impact factor:   4.849


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  14 in total

1.  New nomenclature and classification scheme for the neuronal ceroid lipofuscinoses.

Authors:  Ruth E Williams; Sara E Mole
Journal:  Neurology       Date:  2012-07-10       Impact factor: 9.910

2.  Cathepsin D deficiency induces lysosomal storage with ceroid lipofuscin in mouse CNS neurons.

Authors:  M Koike; H Nakanishi; P Saftig; J Ezaki; K Isahara; Y Ohsawa; W Schulz-Schaeffer; T Watanabe; S Waguri; S Kametaka; M Shibata; K Yamamoto; E Kominami; C Peters; K von Figura; Y Uchiyama
Journal:  J Neurosci       Date:  2000-09-15       Impact factor: 6.167

Review 3.  Experimental therapies in the neuronal ceroid lipofuscinoses.

Authors:  Nicole J Neverman; Hannah L Best; Sandra L Hofmann; Stephanie M Hughes
Journal:  Biochim Biophys Acta       Date:  2015-05-06

4.  Cathepsin D deficiency is associated with a human neurodegenerative disorder.

Authors:  Robert Steinfeld; Konstanze Reinhardt; Kathrin Schreiber; Merle Hillebrand; Ralph Kraetzner; Wolfgang Bruck; Paul Saftig; Jutta Gartner
Journal:  Am J Hum Genet       Date:  2006-03-29       Impact factor: 11.025

5.  A mutation in the ovine cathepsin D gene causes a congenital lysosomal storage disease with profound neurodegeneration.

Authors:  J Tyynelä; I Sohar; D E Sleat; R M Gin; R J Donnelly; M Baumann; M Haltia; P Lobel
Journal:  EMBO J       Date:  2000-06-15       Impact factor: 11.598

6.  Cardiac involvement in juvenile neuronal ceroid lipofuscinosis (Batten disease).

Authors:  J R Ostergaard; T B Rasmussen; H Mølgaard
Journal:  Neurology       Date:  2011-04-05       Impact factor: 9.910

7.  Novel mutation and the first prenatal screening of cathepsin D deficiency (CLN10).

Authors:  Karen Fritchie; Eija Siintola; Diane Armao; Anna-Elina Lehesjoki; Thomas Marino; Cynthia Powell; Michael Tennison; Jessica M Booker; Sabine Koch; Sanna Partanen; Kinuko Suzuki; Jaana Tyynelä; Leigh B Thorne
Journal:  Acta Neuropathol       Date:  2008-09-02       Impact factor: 17.088

Review 8.  Human pathology in NCL.

Authors:  Glenn W Anderson; Hans H Goebel; Alessandro Simonati
Journal:  Biochim Biophys Acta       Date:  2012-11-29

9.  Cathepsin D deficiency causes juvenile-onset ataxia and distinctive muscle pathology.

Authors:  Joshua Hersheson; Derek Burke; Robert Clayton; Glenn Anderson; Thomas S Jacques; Philippa Mills; Nicholas W Wood; Paul Gissen; Peter Clayton; Julian Fearnley; Sara E Mole; Henry Houlden
Journal:  Neurology       Date:  2014-10-08       Impact factor: 9.910

10.  Molecular epidemiology of childhood neuronal ceroid-lipofuscinosis in Italy.

Authors:  Filippo Maria Santorelli; Barbara Garavaglia; Francesco Cardona; Nardo Nardocci; Bernardo Dalla Bernardina; Stefano Sartori; Agnese Suppiej; Enrico Bertini; Dianela Claps; Roberta Battini; Roberta Biancheri; Mirella Filocamo; Francesco Pezzini; Alessandro Simonati
Journal:  Orphanet J Rare Dis       Date:  2013-02-02       Impact factor: 4.123
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  12 in total

1.  Neuronal ceroid lipofuscinosis: genetic and phenotypic spectrum of 14 patients from Turkey.

Authors:  Melis Kose; Engin Kose; Aycan Ünalp; Ünsal Yılmaz; Selvinaz Edizer; Hande Gazeteci Tekin; Pakize Karaoğlu; Taha Reşid Özdemir; Esra Er; Hüseyin Onay; Eser Sozmen Yildirim
Journal:  Neurol Sci       Date:  2021-01-23       Impact factor: 3.307

Review 2.  Endosomal Trafficking in Alzheimer's Disease, Parkinson's Disease, and Neuronal Ceroid Lipofuscinosis.

Authors:  Yasir H Qureshi; Penelope Baez; Christiane Reitz
Journal:  Mol Cell Biol       Date:  2020-09-14       Impact factor: 4.272

3.  Expanding the Neuroimaging Phenotype of Neuronal Ceroid Lipofuscinoses.

Authors:  A Biswas; P Krishnan; A Amirabadi; S Blaser; S Mercimek-Andrews; M Shroff
Journal:  AJNR Am J Neuroradiol       Date:  2020-08-27       Impact factor: 3.825

4.  Lysosomal Cathepsin Protease Gene Expression Profiles in the Human Brain During Normal Development.

Authors:  Amy Hsu; Sonia Podvin; Vivian Hook
Journal:  J Mol Neurosci       Date:  2018-07-14       Impact factor: 3.444

Review 5.  Therapeutic landscape for Batten disease: current treatments and future prospects.

Authors:  Tyler B Johnson; Jacob T Cain; Katherine A White; Denia Ramirez-Montealegre; David A Pearce; Jill M Weimer
Journal:  Nat Rev Neurol       Date:  2019-03       Impact factor: 42.937

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

Authors:  Francesco Pezzini; Marzia Bianchi; Salvatore Benfatto; Francesca Griggio; Stefano Doccini; Rosalba Carrozzo; Arvydas Dapkunas; Massimo Delledonne; Filippo M Santorelli; Maciej M Lalowski; Alessandro Simonati
Journal:  Front Mol Neurosci       Date:  2017-08-22       Impact factor: 5.639

Review 7.  Emerging new roles of the lysosome and neuronal ceroid lipofuscinoses.

Authors:  Anil B Mukherjee; Abhilash P Appu; Tamal Sadhukhan; Sydney Casey; Avisek Mondal; Zhongjian Zhang; Maria B Bagh
Journal:  Mol Neurodegener       Date:  2019-01-16       Impact factor: 14.195

Review 8.  Cathepsins in the Pathophysiology of Mucopolysaccharidoses: New Perspectives for Therapy.

Authors:  Valeria De Pasquale; Anna Moles; Luigi Michele Pavone
Journal:  Cells       Date:  2020-04-15       Impact factor: 6.600

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

Authors:  Josina Bunk; Susy Prieto Huarcaya; Alice Drobny; Jan Philipp Dobert; Lina Walther; Stefan Rose-John; Philipp Arnold; Friederike Zunke
Journal:  Front Cell Dev Biol       Date:  2021-02-11

10.  Rapid and Progressive Loss of Multiple Retinal Cell Types in Cathepsin D-Deficient Mice-An Animal Model of CLN10 Disease.

Authors:  Mahmoud Bassal; Junling Liu; Wanda Jankowiak; Paul Saftig; Udo Bartsch
Journal:  Cells       Date:  2021-03-21       Impact factor: 6.600
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