Niemann-Pick type C disease

Niemann-Pick type C disease

We analyzed Niemann-Pick type C disease 1 (NP44406) gene in 12 patients with Niemann-Pick type C disease by sequencing both cDNA obtained from fibroblasts and genomic DNA. All the patients were compound heterozygotes. We found 15 mutations, eight of which previously unreported. The comparison of cDN...

Full description

Bibliographic Details
Main Authors:	Patrizia Tarugi, Giorgia Ballarini, Bruno Bembi, Carla Battisti, Silvia Palmeri, Francesca Panzani, Enza Di Leo, Cristina Martini, Antonio Federico, Sebastiano Calandra
Format:	Article
Language:	English
Published:	Elsevier 2002-11-01
Series:	Journal of Lipid Research
Subjects:	monoallelic expression abnormal mRNA decay splicing defects alternative splicing
Online Access:	http://www.sciencedirect.com/science/article/pii/S0022227520327668

Similar Items

Exonic CLDN16 mutations associated with familial hypomagnesemia with hypercalciuria and nephrocalcinosis can induce deleterious mRNA alterations
by: Ana Perdomo-Ramirez, et al.
Published: (2019-01-01)

Development of an in vitro pre-mRNA splicing assay using plant nuclear extract
by: Mohammed Albaqami, et al.
Published: (2018-01-01)

Aberrant Single Exon Skipping is not Altered by Age in Exons of NF1, RABAC1, AATF or PCGF2 in Human Blood Cells and Fibroblasts
by: Markus Lamla, et al.
Published: (2011-08-01)

In or Out? New Insights on Exon Recognition through Splice-Site Interdependency
by: Mubeen Khan, et al.
Published: (2020-03-01)

A Novel Mutation in the Fibrinogen Bβ Chain (c.490G>A; End of Exon 3) Causes a Splicing Abnormality and Ultimately Leads to Congenital Hypofibrinogenemia
by: Chiaki Taira, et al.
Published: (2017-11-01)

Modifying splice site usage with ModCon: Maintaining the genetic code while changing the underlying mRNP code
by: Johannes Ptok, et al.
Published: (2021-01-01)

Deciphering the plant splicing code: Experimental and computational approaches for predicting alternative splicing and splicing regulatory elements
by: Anireddy S.N. Reddy, et al.
Published: (2012-02-01)

Regulation of mRNA Levels by Decay-Promoting Introns that Recruit the Exosome Specificity Factor Mmi1
by: Cornelia Kilchert, et al.
Published: (2015-12-01)

Function and Pathological Implications of Exon Junction Complex Factor Y14
by: Tzu-Wei Chuang, et al.
Published: (2015-04-01)

Abnormal splicing of ABCA1 pre-mRNA in Tangier disease due to a IVS2 +5G>C mutation in ABCA1 gene
by: Serena Altilia, et al.
Published: (2003-02-01)

Dynamic Supraspliceosomes Are Assembled on Different Transcripts Regardless of Their Intron Number and Splicing State
by: Naama Sebbag-Sznajder, et al.
Published: (2020-05-01)

Natural rules for Arabidopsis thaliana pre-mRNA splicing site selection
by: Wu Ning, et al.
Published: (2012-08-01)

The Characterization of GSDMB Splicing and Backsplicing Profiles Identifies Novel Isoforms and a Circular RNA That Are Dysregulated in Multiple Sclerosis
by: Giulia Cardamone, et al.
Published: (2017-03-01)

Splicing repression allows the gradual emergence of new Alu-exons in primate evolution
by: Jan Attig, et al.
Published: (2016-11-01)

Evolution of Alternative Splicing in Eudicots
by: Zhihao Ling, et al.
Published: (2019-06-01)

Massive computational identification of somatic variants in exonic splicing enhancers using The Cancer Genome Atlas
by: Kousuke Tanimoto, et al.
Published: (2019-12-01)

Regulating Divergent Transcriptomes through mRNA Splicing and Its Modulation Using Various Small Compounds
by: Ken-ichi Fujita, et al.
Published: (2020-03-01)

Histonmodifieringar och alternativ splicing
by: Berggren, Jenny
Published: (2011)

THE CONTRIBUTION OF TWO RELATED BBP-BINDING GYF PROTEINS, SMY2 AND SYH1, TO CELLULAR RNA ABUNDANCE AND GENOME STABILITY
by: Chen, Min
Published: (2013)

Splicing Enhancers at Intron–Exon Borders Participate in Acceptor Splice Sites Recognition
by: Tatiana Kováčová, et al.
Published: (2020-09-01)

Inherited Retinal Disease Therapies Targeting Precursor Messenger Ribonucleic Acid
by: Di Huang, et al.
Published: (2017-09-01)

Novel splice isoforms of pig myoneurin and their diverse mRNA expression patterns
by: Xiaohong Guo, et al.
Published: (2018-10-01)

Usefulness and Limitations of Comprehensive Characterization of mRNA Splicing Profiles in the Definition of the Clinical Relevance of BRCA1/2 Variants of Uncertain Significance
by: Elisa Gelli, et al.
Published: (2019-03-01)

Regulation of U1 snRNP / 5' splice site interactions during pre-mRNA splicing in saccharomyces cerevisiae
by: Stands, Leah Rae
Published: (2003)

The Exon Junction Complex Core Represses Cancer-Specific Mature mRNA Re-splicing: A Potential Key Role in Terminating Splicing
by: Yuta Otani, et al.
Published: (2021-06-01)

Alternativ splicing: en process som medför att flera olika mRNA-transkript bildas från individuella gener
by: Savas, Isabella
Published: (2010)

Auto-Regulation of the MBNL1 Pre-mRNA
by: Gates, Devika P., 1984-
Published: (2011)

A donor splice site mutation in CISD2 generates multiple truncated, non-functional isoforms in Wolfram syndrome type 2 patients
by: Monica Cattaneo, et al.
Published: (2017-12-01)

The Supraspliceosome — A Multi-Task Machine for Regulated Pre-mRNA Processing in the Cell Nucleus
by: Kinneret Shefer, et al.
Published: (2014-09-01)

The Effect of SF3B1 Mutation on the DNA Damage Response and Nonsense-Mediated mRNA Decay in Cancer
by: Alexander C. Leeksma, et al.
Published: (2021-01-01)

Novel deep intronic mutation in the coagulation factor XIII a chain gene leading to unexpected RNA splicing in a patient with factor XIII deficiency
by: Jun Deng, et al.
Published: (2020-01-01)

Mutations of Pre-mRNA Splicing Regulatory Elements: Are Predictions Moving Forward to Clinical Diagnostics?
by: Lucie Grodecká, et al.
Published: (2017-07-01)

At the Intersection of Major and Minor Spliceosomes: Crosstalk Mechanisms and Their Impact on Gene Expression
by: Maureen V. Akinyi, et al.
Published: (2021-07-01)

An intimate view of a spliceosome component
by: Timothy W Nilsen
Published: (2015-02-01)

Crystal structure of human U1 snRNP, a small nuclear ribonucleoprotein particle, reveals the mechanism of 5′ splice site recognition
by: Yasushi Kondo, et al.
Published: (2015-01-01)

Mutant PRPF8 Causes Widespread Splicing Changes in Spliceosome Components in Retinitis Pigmentosa Patient iPSC-Derived RPE Cells
by: Ángeles Arzalluz-Luque, et al.
Published: (2021-04-01)

Modularized Perturbation of Alternative Splicing Across Human Cancers
by: Yabing Du, et al.
Published: (2019-04-01)

Corrigendum: Modularized Perturbation of Alternative Splicing Across Human Cancers
by: Yabing Du, et al.
Published: (2019-10-01)

Proteogenomics Reveals Orthologous Alternatively Spliced Proteoforms in the Same Human and Mouse Brain Regions with Differential Abundance in an Alzheimer’s Disease Mouse Model
by: Esdras Matheus Gomes da Silva, et al.
Published: (2021-06-01)

6-Phosphofructo-2-kinase/fructose-2,6-bisphosphatase genus: structural organization, expression and regulation of the expression
by: D. O. Minchenko, et al.
Published: (2009-12-01)