Cln3
            ‐mutations underlying juvenile neuronal ceroid lipofuscinosis cause significantly reduced levels of Palmitoyl‐protein thioesterases‐1 (Ppt1)‐protein and Ppt1‐enzyme activity in the lysosome

Loss of pigment-laden stellate cells: A severe alteration of the isocortex in juvenile neuronal ceroid-lipofuscinosis

Acta Neuropathologica ◽

10.1007/bf01273267 ◽

1978 ◽

Vol 42 (1) ◽

pp. 53-57 ◽

Cited By ~ 47

Author(s):

H. Braak ◽

H. H. Goebel

Keyword(s):

Stellate Cells ◽

Photoreceptor phagosome processing defects and disturbed autophagy in retinal pigment epithelium ofCln3Δex1-6mice modelling juvenile neuronal ceroid lipofuscinosis (Batten disease)

Human Molecular Genetics ◽

10.1093/hmg/ddv406 ◽

2015 ◽

pp. ddv406 ◽

Cited By ~ 7

Author(s):

Silène T. Wavre-Shapton ◽

Alessandra A. Calvi ◽

Mark Turmaine ◽

Miguel C. Seabra ◽

Daniel F. Cutler ◽

...

Keyword(s):

Retinal Pigment Epithelium ◽

Pigment Epithelium ◽

Retinal Pigment ◽

Batten Disease ◽

Ceroid Lipofuscinosis ◽

Processing Defects

Altered Flurothyl Seizure Induction Latency, Phenotype, and Subsequent Mortality in a Mouse Model of Juvenile Neuronal Ceroid Lipofuscinosis/Batten Disease

Epilepsia ◽

10.1046/j.1528-1157.2002.16002.x ◽

2002 ◽

Vol 43 (10) ◽

pp. 1137-1140 ◽

Cited By ~ 11

Author(s):

Elizabeth Kriscenski-Perry ◽

Craig D. Applegate ◽

Andrew Serour ◽

Timothy R. Mhyre ◽

Christopher C. Leonardo ◽

...

Keyword(s):

Mouse Model ◽

Batten Disease ◽

Diagnostic Value of Electron Microscopy in a Case of Juvenile Neuronal Ceroid Lipofuscinosis

Ultrastructural Pathology ◽

10.1080/019131201753136296 ◽

2001 ◽

Vol 25 (4) ◽

pp. 285-288 ◽

Cited By ~ 5

Author(s):

Birgitta Carlén, Elisabet Englund

Keyword(s):

Electron Microscopy ◽

Diagnostic Value ◽

Immunomodulation with minocycline rescues retinal degeneration in juvenile neuronal ceroid lipofuscinosis mice highly susceptible to light damage

Disease Models & Mechanisms ◽

10.1242/dmm.033597 ◽

2018 ◽

Vol 11 (9) ◽

pp. dmm033597 ◽

Cited By ~ 9

Author(s):

Katharina Dannhausen ◽

Christoph Möhle ◽

Thomas Langmann

Keyword(s):

Retinal Degeneration ◽

Light Damage ◽

Psychiatric symptoms of children and adolescents with juvenile neuronal ceroid lipofuscinosis

Journal of Intellectual Disability Research ◽

10.1111/j.1365-2788.2005.00659.x ◽

2005 ◽

Vol 49 (1) ◽

pp. 25-32 ◽

Cited By ~ 24

Author(s):

M. L. Backman ◽

P. R. Santavuori ◽

L. E. Aberg ◽

E. T. Aronen

Keyword(s):

Children And Adolescents ◽

Psychiatric Symptoms ◽

Comparison of the Clinical Courses in Patients with Juvenile Neuronal Ceroid Lipofuscinosis Receiving Antioxidant Treatment and Those without Antioxidant Treatment

Lipofuscin and Ceroid Pigments - Advances in Experimental Medicine and Biology ◽

10.1007/978-1-4899-5339-1_19 ◽

1990 ◽

pp. 273-282 ◽

Cited By ~ 3

Author(s):

P. Santavuori ◽

H. Heiskala ◽

T. Autti ◽

E. Johansson ◽

T. Westermarck

Keyword(s):

Antioxidant Treatment ◽

Juvenile neuronal ceroid lipofuscinosis (JNCL) is associated with aberrant glial activation in the central nervous system

Molecular Genetics and Metabolism ◽

10.1016/j.ymgme.2012.11.127 ◽

2013 ◽

Vol 108 (2) ◽

pp. S53

Author(s):

Tammy Kielian ◽

Maria Burkovetskaya ◽

Nikolay Karpuk ◽

Juan Xiong

Keyword(s):

Central Nervous System ◽

Nervous System ◽

Glial Activation ◽

Ceroid Lipofuscinosis ◽

The Central Nervous System

First African-American child with juvenile neuronal ceroid lipofuscinosis

American Journal of Medical Genetics ◽

10.1002/(sici)1096-8628(19981012)79:5<335::aid-ajmg1>3.0.co;2-i ◽

1998 ◽

Vol 79 (5) ◽

pp. 335-336 ◽

Cited By ~ 4

Author(s):

Cigdem ?nan ◽

David Wong ◽

Krystina E. Wisniewski ◽

Arthur L. Rose ◽

Maria A. Musarella

Keyword(s):

African American ◽

African American Child ◽

American Child ◽

An improved, novel, systemically administered AAV gene therapy for treatment of CLN3 juvenile neuronal ceroid lipofuscinosis

Molecular Genetics and Metabolism ◽

10.1016/j.ymgme.2018.12.202 ◽

2019 ◽

Vol 126 (2) ◽

pp. S82-S83 ◽

Cited By ~ 1

Author(s):

Scott Kerns ◽

M. Arnold ◽

A. Aldrich ◽

R. Fallet ◽

Tammy Kielian ◽

...

Keyword(s):

Gene Therapy ◽