Literature DB >> 10894849

Enzyme-based diagnosis of classical late infantile neuronal ceroid lipofuscinosis: comparison of tripeptidyl peptidase I and pepstatin-insensitive protease assays.

I Sohar1, L Lin, P Lobel.   

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Year:  2000        PMID: 10894849

Source DB:  PubMed          Journal:  Clin Chem        ISSN: 0009-9147            Impact factor:   8.327


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  27 in total

1.  Production and characterization of recombinant human CLN2 protein for enzyme-replacement therapy in late infantile neuronal ceroid lipofuscinosis.

Authors:  L Lin; P Lobel
Journal:  Biochem J       Date:  2001-07-01       Impact factor: 3.857

2.  Significance and prognostic value of lysosomal enzyme activities measured in surgically operated adenocarcinomas of the gastroesophageal junction and squamous cell carcinomas of the lower third of esophagus.

Authors:  Aron Altorjay; Balazs Paal; Nicolette Sohar; Janos Kiss; Imre Szanto; Istvan Sohar
Journal:  World J Gastroenterol       Date:  2005-10-07       Impact factor: 5.742

3.  Effective intravenous therapy for neurodegenerative disease with a therapeutic enzyme and a peptide that mediates delivery to the brain.

Authors:  Yu Meng; Istvan Sohar; David E Sleat; Jason R Richardson; Kenneth R Reuhl; Robert B Jenkins; Gobinda Sarkar; Peter Lobel
Journal:  Mol Ther       Date:  2013-12-26       Impact factor: 11.454

4.  Intra-arterial delivery of AAV vectors to the mouse brain after mannitol mediated blood brain barrier disruption.

Authors:  Conor P Foley; David G Rubin; Alejandro Santillan; Dolan Sondhi; Jonathan P Dyke; Ronald G Crystal; Y Pierre Gobin; Douglas J Ballon
Journal:  J Control Release       Date:  2014-09-28       Impact factor: 9.776

5.  Metabolic changes in the lower esophageal sphincter influencing the result of anti-reflux surgical interventions in chronic gastroesophageal reflux disease.

Authors:  Aron Altorjay; Arpad Juhasz; Viola Kellner; Gellert Sohar; Matyas Fekete; Istvan Sohar
Journal:  World J Gastroenterol       Date:  2005-03-21       Impact factor: 5.742

6.  A mouse model of classical late-infantile neuronal ceroid lipofuscinosis based on targeted disruption of the CLN2 gene results in a loss of tripeptidyl-peptidase I activity and progressive neurodegeneration.

Authors:  David E Sleat; Jennifer A Wiseman; Mukarram El-Banna; Kwi-Hye Kim; Qinwen Mao; Sandy Price; Shannon L Macauley; Richard L Sidman; Michael M Shen; Qi Zhao; Marco A Passini; Beverly L Davidson; Gregory R Stewart; Peter Lobel
Journal:  J Neurosci       Date:  2004-10-13       Impact factor: 6.167

7.  Diagnostic utility of whole exome sequencing in patients showing cerebellar and/or vermis atrophy in childhood.

Authors:  Chihiro Ohba; Hitoshi Osaka; Mizue Iai; Sumimasa Yamashita; Yume Suzuki; Noriko Aida; Nobuyuki Shimozawa; Ayumi Takamura; Hiroshi Doi; Atsuko Tomita-Katsumoto; Kiyomi Nishiyama; Yoshinori Tsurusaki; Mitsuko Nakashima; Noriko Miyake; Yoshikatsu Eto; Fumiaki Tanaka; Naomichi Matsumoto; Hirotomo Saitsu
Journal:  Neurogenetics       Date:  2013-10-04       Impact factor: 2.660

8.  Functions of the alpha, beta, and gamma subunits of UDP-GlcNAc:lysosomal enzyme N-acetylglucosamine-1-phosphotransferase.

Authors:  Yi Qian; Intaek Lee; Wang-Sik Lee; Meiqian Qian; Mariko Kudo; William M Canfield; Peter Lobel; Stuart Kornfeld
Journal:  J Biol Chem       Date:  2009-12-02       Impact factor: 5.157

9.  The role of nonsense-mediated decay in neuronal ceroid lipofuscinosis.

Authors:  Jake N Miller; Chun-Hung Chan; David A Pearce
Journal:  Hum Mol Genet       Date:  2013-03-28       Impact factor: 6.150

10.  Neuronal ceroid lipofuscinoses are connected at molecular level: interaction of CLN5 protein with CLN2 and CLN3.

Authors:  Jouni Vesa; Mark H Chin; Kathrin Oelgeschläger; Juha Isosomppi; Esteban C DellAngelica; Anu Jalanko; Leena Peltonen
Journal:  Mol Biol Cell       Date:  2002-07       Impact factor: 4.138

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