The neuronal ceroid lipofuscinosis type 2 - associated variants: An analysis of alterations in the

TPP1 enzyme deficiency TPP1 gene genotype–phenotype correlation neuronal ceroid lipofuscinosis type 2

Journal

JIMD reports
ISSN: 2192-8304
Titre abrégé: JIMD Rep
Pays: United States
ID NLM: 101568557

Informations de publication

Date de publication:
Jul 2024
Historique:
received: 29 02 2024
revised: 11 04 2024
accepted: 16 04 2024
medline: 8 7 2024
pubmed: 8 7 2024
entrez: 8 7 2024
Statut: epublish

Résumé

The neuronal ceroid lipofuscinosis type 2 (CLN2) is a heterogeneous group of neurodegenerative lysosomal storage disorders caused by autosomal recessive inheritance of two pathogenic variants in trans in the

Identifiants

DOI: 10.1002/jmd2.12423 PMID: 38974612 PMC: PMC11224496
pubmed: 38974612
doi: 10.1002/jmd2.12423
pii: JMD212423
pmc: PMC11224496
doi:

Types de publication

Journal Article

Langues

eng

Pagination

272-279

Informations de copyright

© 2024 The Authors. JIMD Reports published by John Wiley & Sons Ltd on behalf of SSIEM.

Déclaration de conflit d'intérêts

Nataliia Olkhovych, Nataliia Pichkur, Rodolfo Tonin, Nataliia Mytsyk, Svitlana Kormoz, Iryna Hregul, Nataliia Samonenko, Tetiana Shklyarskaya, Volodymyr Olkhovych, Olexandr Buryak, Amelia Morrone, and Nataliia Gorovenko declare that they have no conflict of interest.

Auteurs

Nataliia Olkhovych (N)

Department of Genetic Diagnostics National Scientific Center, Institute of Cardiology, Clinical and Regenerative Medicine M.D. Strazheska, National Academy of Medical Sciences of Ukraine Kyiv Ukraine.
Laboratory of Medical Genetics National Children's Hospital OHMATDYT, Ministry of Health of Ukraine Kyiv Ukraine.
ORCID: 0000-0001-6468-2782

Nataliia Pichkur (N)

Department of Genetic Diagnostics National Scientific Center, Institute of Cardiology, Clinical and Regenerative Medicine M.D. Strazheska, National Academy of Medical Sciences of Ukraine Kyiv Ukraine.
Laboratory of Medical Genetics National Children's Hospital OHMATDYT, Ministry of Health of Ukraine Kyiv Ukraine.
ORCID: 0000-0003-2850-6444

Nataliia Mytsyk (N)

Department of Genetic Diagnostics National Scientific Center, Institute of Cardiology, Clinical and Regenerative Medicine M.D. Strazheska, National Academy of Medical Sciences of Ukraine Kyiv Ukraine.
Laboratory of Medical Genetics National Children's Hospital OHMATDYT, Ministry of Health of Ukraine Kyiv Ukraine.
ORCID: 0009-0005-4287-1570

Rodolfo Tonin (R)

Laboratory of Molecular Biology of Neurometabolic Diseases, Neuroscience Department Meyer Children's Hospital (AOU Meyer - IRCCS) Firenze Italy.
ORCID: 0000-0001-5170-6757

Svitlana Kormoz (S)

Laboratory of Medical Genetics National Children's Hospital OHMATDYT, Ministry of Health of Ukraine Kyiv Ukraine.
ORCID: 0009-0009-0717-1439

Iryna Hregul (I)

Laboratory of Medical Genetics National Children's Hospital OHMATDYT, Ministry of Health of Ukraine Kyiv Ukraine.
ORCID: 0009-0000-8895-7576

Nataliia Samonenko (N)

Laboratory of Medical Genetics National Children's Hospital OHMATDYT, Ministry of Health of Ukraine Kyiv Ukraine.
Department of Medical and Laboratory Genetics National University of Health named after P.L.Shupika Kyiv Ukraine.
ORCID: 0000-0002-6927-3301

Tetiana Shklyarskaya (T)

Laboratory of Medical Genetics National Children's Hospital OHMATDYT, Ministry of Health of Ukraine Kyiv Ukraine.
ORCID: 0009-0007-9603-1328

Volodymyr Olkhovych (V)

Department of Genetic Diagnostics National Scientific Center, Institute of Cardiology, Clinical and Regenerative Medicine M.D. Strazheska, National Academy of Medical Sciences of Ukraine Kyiv Ukraine.
ORCID: 0009-0002-9603-2447

Olexandr Buryak (O)

Department of Genetic Diagnostics National Scientific Center, Institute of Cardiology, Clinical and Regenerative Medicine M.D. Strazheska, National Academy of Medical Sciences of Ukraine Kyiv Ukraine.
ORCID: 0009-0004-1916-7801

Amelia Morrone (A)

Laboratory of Molecular Biology of Neurometabolic Diseases, Neuroscience Department Meyer Children's Hospital (AOU Meyer - IRCCS) Firenze Italy.
Department of Neurosciences, Psychology, Drug Research and Child Health University of Florence Firenze Italy.
ORCID: 0000-0003-2890-8179

Nataliia Gorovenko (N)

Department of Genetic Diagnostics National Scientific Center, Institute of Cardiology, Clinical and Regenerative Medicine M.D. Strazheska, National Academy of Medical Sciences of Ukraine Kyiv Ukraine.
Department of Medical and Laboratory Genetics National University of Health named after P.L.Shupika Kyiv Ukraine.
ORCID: 0000-0003-4227-7166

Classifications MeSH