Literature DB >> 25298308

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

Joshua Hersheson1, Derek Burke1, Robert Clayton1, Glenn Anderson1, Thomas S Jacques1, Philippa Mills1, Nicholas W Wood1, Paul Gissen1, Peter Clayton1, Julian Fearnley1, Sara E Mole1, Henry Houlden2.   

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Year:  2014        PMID： 25298308      PMCID： PMC4240432          DOI： 10.1212/WNL.0000000000000981

Source DB:  PubMed          Journal:  Neurology        ISSN： 0028-3878            Impact factor:   9.910


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  7 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 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

3.  Specific involvement of muscle, nerve, and skin in late infantile and juvenile amaurotic idiocy.

Authors:  S Carpenter; G Karpati; F Andermann
Journal:  Neurology       Date:  1972-02       Impact factor: 9.910

4.  [An autopsy case of juvenile neuronal ceroid-lipofuscinosis with dilated cardiomyopathy].

Authors:  H Tomiyasu; W Takahashi; T Ohta; F Yoshii; M Shibuya; Y Shinohara
Journal:  Rinsho Shinkeigaku       Date:  2000-04

5.  Cathepsin D deficiency underlies congenital human neuronal ceroid-lipofuscinosis.

Authors:  Eija Siintola; Sanna Partanen; Petter Strömme; Aleksi Haapanen; Matti Haltia; Jan Maehlen; Anna-Elina Lehesjoki; Jaana Tyynelä
Journal:  Brain       Date:  2006-05-02       Impact factor: 13.501

6.  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

7.  Knockdown of cathepsin D in zebrafish fertilized eggs determines congenital myopathy.

Authors:  Carlo Follo; Matteo Ozzano; Claudia Montalenti; Massimo Mattia Santoro; Ciro Isidoro
Journal:  Biosci Rep       Date:  2013-04-04       Impact factor: 3.840
  7 in total
  13 in total

Review 1.  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

2.  Ataxia telangiectasia alters the ApoB and reelin pathway.

Authors:  Júlia Canet-Pons; Ralf Schubert; Ruth Pia Duecker; Roland Schrewe; Sandra Wölke; Matthias Kieslich; Martina Schnölzer; Andreas Chiocchetti; Georg Auburger; Stefan Zielen; Uwe Warnken
Journal:  Neurogenetics       Date:  2018-10-21       Impact factor: 2.660

Review 3.  Neuronal Ceroid Lipofuscinosis: Potential for Targeted Therapy.

Authors:  Nicola Specchio; Alessandro Ferretti; Marina Trivisano; Nicola Pietrafusa; Chiara Pepi; Costanza Calabrese; Susanna Livadiotti; Alessandra Simonetti; Paolo Rossi; Paolo Curatolo; Federico Vigevano
Journal:  Drugs       Date:  2021-01       Impact factor: 9.546

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

Authors:  Stefano Doccini; Stefano Sartori; Stefan Maeser; Francesco Pezzini; Sara Rossato; Francesca Moro; Irene Toldo; Michael Przybylski; Filippo M Santorelli; Alessandro Simonati
Journal:  J Neurol       Date:  2016-04-12       Impact factor: 4.849

5.  Advances in the Treatment of Neuronal Ceroid Lipofuscinosis.

Authors:  Jonathan B Rosenberg; Alvin Chen; Stephen M Kaminsky; Ronald G Crystal; Dolan Sondhi
Journal:  Expert Opin Orphan Drugs       Date:  2019-11-27       Impact factor: 0.694

Review 6.  Cathepsin D-Managing the Delicate Balance.

Authors:  Olja Mijanovic; Anastasiia I Petushkova; Ana Brankovic; Boris Turk; Anna B Solovieva; Angelina I Nikitkina; Sergey Bolevich; Peter S Timashev; Alessandro Parodi; Andrey A Zamyatnin
Journal:  Pharmaceutics       Date:  2021-06-05       Impact factor: 6.321

Review 7.  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

8.  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

9.  Lysosomal Function Impacts the Skeletal Muscle Extracellular Matrix.

Authors:  Elizabeth C Coffey; Mary Astumian; Sarah S Alrowaished; Claire Schaffer; Clarissa A Henry
Journal:  J Dev Biol       Date:  2021-11-23

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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