Two novel CLN5 mutations in a Portuguese patient with vLINCL: Insights into molecular mechanisms of CLN5 deficiency-Reference-Cited by-同舟云学术

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Two novel CLN5 mutations in a Portuguese patient with vLINCL: Insights into molecular mechanisms of CLN5 deficiency

Published:2006-11 Issue:3 Volume:89 Page:245-253
ISSN:1096-7192
Container-title:Molecular Genetics and Metabolism
language:en
Short-container-title:Molecular Genetics and Metabolism

Author:

Bessa C.,Teixeira C.A.F.,Mangas M.,Dias A.,Sá Miranda M.C.,Guimarães A.,Ferreira J.C.,Canas N.,Cabral P.,Ribeiro M.G.

Publisher

Elsevier BV

Subject

Endocrinology,Genetics,Molecular Biology,Biochemistry,Endocrinology, Diabetes and Metabolism

Reference34 articles.

1. The European Concerted Action NCL Clinical Case Registry;Williams;Mol. Genet. Metab.,1999

2. Neuronal ceroid-lipofuscinoses in childhood;Santavuori;Brain Dev.,1988

3. Mutations in the palmitoyl protein thioesterase gene causing infantile neuronal ceroid lipofuscinosis;Vesa;Nature,1995

4. Association of mutations in a lysosomal protein with classical late-infantile neuronal ceroid lipofuscinosis;Sleat;Science,1997

5. Isolation of a novel gene underlying Batten disease, CLN3. The International Batten Disease Consortium. Cell 82 (6) (1995) 949–57.

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1. Characterization of neuropathology in ovine CLN5 and CLN6 neuronal ceroid lipofuscinoses (Batten disease);Developmental Neurobiology;2023-05-28

2. KCTD7 mutations impair the trafficking of lysosomal enzymes through CLN5 accumulation to cause neuronal ceroid lipofuscinoses;Science Advances;2022-08-05

3. A novel CLN5 mutation in Turkish patient with variant late-onset neuronal ceroid lipofuscinosis and recurrent fractures that causes severe morbidity;Neurocase;2021-10-22

4. Visual system pathology in a canine model of CLN5 neuronal ceroid lipofuscinosis;Experimental Eye Research;2021-09

5. A lysosomal enigma CLN5 and its significance in understanding neuronal ceroid lipofuscinosis;Cellular and Molecular Life Sciences;2021-04-01

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