Cargando…

Mutation update: Review of TPP1 gene variants associated with neuronal ceroid lipofuscinosis CLN2 disease

Neuronal ceroid lipofuscinosis type 2 (CLN2 disease) is an autosomal recessive condition caused by variants in the TPP1 gene, leading to deficient activity of the lysosomal enzyme tripeptidyl peptidase I (TPP1). We update on the spectrum of TPP1 variants associated with CLN2 disease, comprising 131...

Descripción completa

Detalles Bibliográficos
Autores principales:	Gardner, Emily, Bailey, Mitch, Schulz, Angela, Aristorena, Mikel, Miller, Nicole, Mole, Sara E.
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	John Wiley and Sons Inc. 2019
Materias:	Mutation Updates
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6851559/ https://www.ncbi.nlm.nih.gov/pubmed/31283065 http://dx.doi.org/10.1002/humu.23860

Ejemplares similares

Mucopolysaccharidosis type VI (MPS VI) and molecular analysis: Review and classification of published variants in the ARSB gene
por: Tomanin, Rosella, et al.
Publicado: (2018)

Novel CLN1 mutation with atypical juvenile neuronal ceroid lipofuscinosis
por: Khan, Arif, et al.
Publicado: (2013)

Aberrant upregulation of the glycolytic enzyme PFKFB3 in CLN7 neuronal ceroid lipofuscinosis
por: Lopez-Fabuel, Irene, et al.
Publicado: (2022)

in vivo localization of the neuronal ceroid lipofuscinosis proteins, CLN3 and CLN7, at endogenous expression levels
por: Mohammed, Alamin, et al.
Publicado: (2017)

An ERG and OCT study of neuronal ceroid lipofuscinosis CLN2 Battens retinopathy
por: Thompson, Dorothy A., et al.
Publicado: (2021)

Editorial: Neuronal ceroid lipofuscinosis: A multidisciplinary update
por: Simonati, Alessandro, et al.
Publicado: (2022)

EPCAM mutation update: Variants associated with congenital tufting enteropathy and Lynch syndrome
por: Pathak, Sagar J., et al.
Publicado: (2018)

Progressive MRI brain volume changes in ovine models of CLN5 and CLN6 neuronal ceroid lipofuscinosis
por: Murray, Samantha J, et al.
Publicado: (2023)

Mutation update on ACAT1 variants associated with mitochondrial acetoacetyl‐CoA thiolase (T2) deficiency
por: Abdelkreem, Elsayed, et al.
Publicado: (2019)

A Missense Mutation in Canine CLN6 in an Australian Shepherd with Neuronal Ceroid Lipofuscinosis
por: Katz, Martin L., et al.
Publicado: (2011)

Exacerbated neuronal ceroid lipofuscinosis phenotype in Cln1/5 double-knockout mice
por: Blom, Tea, et al.
Publicado: (2013)

Correction: An ERG and OCT study of neuronal ceroid lipofuscinosis CLN2 Battens retinopathy
por: Thompson, Dorothy A., et al.
Publicado: (2021)

A lysosomal enigma CLN5 and its significance in understanding neuronal ceroid lipofuscinosis
por: Basak, I., et al.
Publicado: (2021)

Etiology of anxious and fearful behavior in juvenile neuronal ceroid lipofuscinosis (CLN3 disease)
por: Ostergaard, John R.
Publicado: (2023)

PRPH2 mutation update: In silico assessment of 245 reported and 7 novel variants in patients with retinal disease
por: Peeters, Manon H. C. A, et al.
Publicado: (2021)

Mutation update for the ACTN2 gene
por: Ranta‐aho, Johanna, et al.
Publicado: (2022)

Alagille syndrome mutation update: Comprehensive overview of JAG1 and NOTCH2 mutation frequencies and insight into missense variant classification
por: Gilbert, Melissa A., et al.
Publicado: (2019)

A mutation update for the FLNC gene in myopathies and cardiomyopathies
por: Verdonschot, Job A. J., et al.
Publicado: (2020)

Update of variants identified in the pancreatic β‐cell K(ATP) channel genes KCNJ11 and ABCC8 in individuals with congenital hyperinsulinism and diabetes
por: De Franco, Elisa, et al.
Publicado: (2020)

Novel likely disease-causing CLN5 variants identified in Pakistani patients with neuronal ceroid lipofuscinosis
por: Azad, Beenish, et al.
Publicado: (2020)

CNGB1‐related rod‐cone dystrophy: A mutation review and update
por: Nassisi, Marco, et al.
Publicado: (2021)

Novel interactions of CLN5 support molecular networking between Neuronal Ceroid Lipofuscinosis proteins
por: Lyly, Annina, et al.
Publicado: (2009)

The neuronal ceroid lipofuscinosis protein Cln7 functions in the postsynaptic cell to regulate synapse development
por: Connolly, Kyle J., et al.
Publicado: (2019)

Characterization of neurological disease progression in a canine model of CLN5 neuronal ceroid lipofuscinosis
por: Meiman, Elizabeth J., et al.
Publicado: (2022)

A mutation update on the LDS‐associated genes TGFB2/3 and SMAD2/3
por: Schepers, Dorien, et al.
Publicado: (2018)

Genetic Etiology of Parkinson Disease Associated with Mutations in the SNCA, PARK2, PINK1, PARK7, and LRRK2 Genes: A Mutation Update
por: Nuytemans, Karen, et al.
Publicado: (2010)

MYO5B, STX3, and STXBP2 mutations reveal a common disease mechanism that unifies a subset of congenital diarrheal disorders: A mutation update
por: Dhekne, Herschel S., et al.
Publicado: (2018)

Altered biometal homeostasis is associated with CLN6 mRNA loss in mouse neuronal ceroid lipofuscinosis
por: Kanninen, Katja M., et al.
Publicado: (2013)

Functional Analysis of a Novel CLN5 Mutation Identified in a Patient With Neuronal Ceroid Lipofuscinosis
por: Luo, Sukun, et al.
Publicado: (2020)

Rare adult neuronal ceroid lipofuscinosis associated with CLN6 gene mutations: A case report
por: Wang, Xue-Qiang, et al.
Publicado: (2023)

Association between CLN3 (Neuronal Ceroid Lipofuscinosis, CLN3 Type) Gene Expression and Clinical Characteristics of Breast Cancer Patients
por: Makoukji, Joelle, et al.
Publicado: (2015)

Morquio A Syndrome-Associated Mutations: A Review of Alterations in the GALNS Gene and a New Locus-Specific Database
por: Morrone, Amelia, et al.
Publicado: (2014)

Molecular basis of mucopolysaccharidosis IVA (Morquio A syndrome): A review and classification of GALNS gene variants and reporting of 68 novel variants
por: Zanetti, Alessandra, et al.
Publicado: (2021)

Neuronal ceroid lipofuscinosis in a German Shorthaired Pointer associated with a previously reported CLN8 nonsense variant
por: Guo, Juyuan, et al.
Publicado: (2019)

Data on characterizing the gene expression patterns of neuronal ceroid lipofuscinosis genes: CLN1, CLN2, CLN3, CLN5 and their association to interneuron and neurotransmission markers: Parvalbumin and Somatostatin
por: Minye, Helena M., et al.
Publicado: (2016)

MRI findings in neuronal ceroid lipofuscinosis
por: Crain, Anna M., et al.
Publicado: (2020)

CRISPR/Cas9 mediated generation of an ovine model for infantile neuronal ceroid lipofuscinosis (CLN1 disease)
por: Eaton, S. L., et al.
Publicado: (2019)

A Drosophila model of neuronal ceroid lipofuscinosis CLN4 reveals a hypermorphic gain of function mechanism
por: Imler, Elliot, et al.
Publicado: (2019)

CLN8 Mutations Presenting with a Phenotypic Continuum of Neuronal Ceroid Lipofuscinosis—Literature Review and Case Report
por: Badura-Stronka, Magdalena, et al.
Publicado: (2021)

Neuronal Ceroid Lipofuscinosis Type 6 (CLN6) clinical findings and molecular diagnosis: Costa Rica’s experience
por: Badilla-Porras, R., et al.
Publicado: (2022)

Cannot write session to /tmp/vufind_sessions/sess_q8527gum7244ca09l0uqpas4pv