A novel CLN8 mutation in late-infantile-onset neuronal ceroid lipofuscinosis (LINCL) reveals aspects of CLN8 neurobiological function. (Q47831027)

6 February 2018

title

A novel CLN8 mutation in late-infantile-onset neuronal ceroid lipofuscinosis (LINCL) reveals aspects of CLN8 neurobiological function. (English)

1 reference

6 February 2018

neuronal ceroid lipofuscinosis

main subject

1 reference

Jansky–Bielschowsky disease

inferred from title

1 reference

3

1 reference

6 February 2018

Cristiana Perrotta

4

1 reference

6 February 2018

Michela Morbin

7

1 reference

6 February 2018

Roberto Giorda

11

1 reference

6 February 2018

Maria Teresa Bassi

14

1 reference

6 February 2018

Chiara Vantaggiato

Chiara Vantaggiato

1

0 references

Maria Clara Bonaglia

Maria C Bonaglia

10

0 references

Nereo Bresolin

Nereo Bresolin

12

0 references

Emilio Clementi

13

Emilio Clementi

1 reference

6 February 2018

author name string

Francesca Redaelli

2

1 reference

6 February 2018

Alessandra Tonelli

5

1 reference

6 February 2018

Sara Bondioni

6

1 reference

6 February 2018

Daria Riva

8

1 reference

6 February 2018

Veronica Saletti

9

1 reference

6 February 2018

publication date

1 July 2009

1 reference

6 February 2018

published in

Human Mutation

1 reference

6 February 2018

volume

30

1 reference

6 February 2018

issue

7

1 reference

6 February 2018

page(s)

1104-1116

1 reference

6 February 2018

Progress towards understanding disease mechanisms in small vertebrate models of neuronal ceroid lipofuscinosis.

cites work

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21012

The neuronal ceroid-lipofuscinoses

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21012

From embryonal carcinoma cells to neurons: the P19 pathway

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21012

7 January 2021

Mitochondrial oxidative metabolism in motor neuron degeneration (mnd) mouse central nervous system

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21012

7 January 2021

Novel mutations in CLN8 in Italian variant late infantile neuronal ceroid lipofuscinosis: Another genetic hit in the Mediterranean.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21012

7 January 2021

Histogenetic processes leading to the laminated neocortex: migration is only a part of the story

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21012

7 January 2021

An autoantibody inhibitory to glutamic acid decarboxylase in the neurodegenerative disorder Batten disease

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21012

7 January 2021

Antisense palmitoyl protein thioesterase 1 (PPT1) treatment inhibits PPT1 activity and increases cell death in LA-N-5 neuroblastoma cells

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21012

7 January 2021

Flupirtine blocks apoptosis in batten patient lymphoblasts and in human postmitotic CLN3- and CLN2-deficient neurons

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21012

7 January 2021

The establishment of polarity by hippocampal neurons in culture

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21012

7 January 2021

A fascination with chromosome rescue in uniparental disomy: Mendelian recessive outlaws and imprinting copyrights infringements

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21012

7 January 2021

Retinal oxidation, apoptosis and age- and sex-differences in the mnd mutant mouse, a model of neuronal ceroid lipofuscinosis

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21012

7 January 2021

Abnormal development of the human cerebral cortex: genetics, functional consequences and treatment options

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21012

7 January 2021

Human homologues of LAG1 reconstitute Acyl-CoA-dependent ceramide synthesis in yeast

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21012

7 January 2021

The Yin and Yang of NMDA receptor signalling

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21012

7 January 2021

Mass spectrometric analysis reveals changes in phospholipid, neutral sphingolipid and sulfatide molecular species in progressive epilepsy with mental retardation, EPMR, brain: a case study

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21012

7 January 2021

Northern epilepsy: a novel form of neuronal ceroid-lipofuscinosis

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21012

7 January 2021

Northern epilepsy syndrome: an inherited childhood onset epilepsy with associated mental deterioration

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21012

7 January 2021

Analysis of phospholipid molecular species in brains from patients with infantile and juvenile neuronal-ceroid lipofuscinosis using liquid chromatography-electrospray ionization mass spectrometry

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21012

7 January 2021

Complete maternal isodisomy of chromosome 8 in an individual with an early-onset ileal carcinoid tumor

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21012

7 January 2021

The p75(NTR)-induced apoptotic program develops through a ceramide-caspase pathway negatively regulated by nitric oxide.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21012

7 January 2021

The neuronal ceroid lipofuscinosis CLN8 membrane protein is a resident of the endoplasmic reticulum

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21012

7 January 2021

Localization of wild-type and mutant neuronal ceroid lipofuscinosis CLN8 proteins in non-neuronal and neuronal cells

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21012

7 January 2021

Regulation of prostaglandin synthesis and cell adhesion by a tryptophan catabolizing enzyme

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21012

7 January 2021

In developing hippocampal neurons, NR2B-containing N-methyl-D-aspartate receptors (NMDARs) can mediate signaling to neuronal survival and synaptic potentiation, as well as neuronal death

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21012

7 January 2021

Turkish variant late infantile neuronal ceroid lipofuscinosis (CLN7) may be allelic to CLN8.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21012

7 January 2021

Correlations between genotype, ultrastructural morphology and clinical phenotype in the neuronal ceroid lipofuscinoses

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21012

7 January 2021

A catalogue of imprinted genes and parent-of-origin effects in humans and animals.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21012

7 January 2021

Long-lasting RNAi activity in mammalian neurons

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21012

7 January 2021

The first ALS2 missense mutation associated with JPLS reveals new aspects of alsin biological function

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21012

7 January 2021

Nitric oxide confers therapeutic activity to dendritic cells in a mouse model of melanoma

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21012

7 January 2021

CLN3 defines a novel antiapoptotic pathway operative in neurodegeneration and mediated by ceramide

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21012

7 January 2021

The neuronal ceroid lipofuscinoses in human EPMR and mnd mutant mice are associated with mutations in CLN8

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21012

7 January 2021

Variant late infantile neuronal ceroid lipofuscinosis in a subset of Turkish patients is allelic to Northern epilepsy

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21012

7 January 2021

Pleiotropic effects of spastin on neurite growth depending on expression levels

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21012

7 January 2021

Neuronal ceroid-lipofuscinoses in childhood

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21012

7 January 2021

Glial-guided neuronal migration in P19 embryonal carcinoma stem cell aggregates.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21012

7 January 2021

Cathepsin D deficiency underlies congenital human neuronal ceroid-lipofuscinosis

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21012

7 January 2021

The novel neuronal ceroid lipofuscinosis gene MFSD8 encodes a putative lysosomal transporter

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21012

7 January 2021

Cathepsin D deficiency is associated with a human neurodegenerative disorder

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21012

7 January 2021

Hippocampal pathology in the human neuronal ceroid-lipofuscinoses: distinct patterns of storage deposition, neurodegeneration and glial activation

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21012

7 January 2021

ER and oxidative stresses are common mediators of apoptosis in both neurodegenerative and non-neurodegenerative lysosomal storage disorders and are alleviated by chemical chaperones

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21012

7 January 2021

Direct evidence for homotypic, glia-independent neuronal migration

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21012

7 January 2021

TRAM, LAG1 and CLN8: members of a novel family of lipid-sensing domains?

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21012

7 January 2021

Identifiers

DOI

10.1002/HUMU.21012

1 reference

6 February 2018

1 reference

6 February 2018