Proteomics

Dataset Information

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Dysregulation of FLVCR1-dependent mitochondrial calcium handling in neural stem cells causes congenital hydrocephalus.


ABSTRACT: Congenital hydrocephalus (CH), occurring in approximately 1/1000 live births, represents an important clinical challenge due to the limited knowledge of underlying molecular mechanisms. The discovery of novel CH-genes is thus essential to shed light on the intricate processes responsible for ventricular dilatation in CH Here we identify FLVCR1 (Feline Leukemia Virus Subgroup C Receptor 1) as a novel gene responsible for a severe form of CH in humans and mice. Mechanistically, our data reveal that the heme exporter FLVCR1a interacts with IP3R3-VDAC, a complex located on mitochondrial-associated membranes (MAMs) that controls mitochondrial calcium handling. Loss of Flvcr1 in mouse neural stem cells (NSCs) affects mitochondrial calcium levels and energy metabolism, leading to defective cortical neurogenesis and brain ventricle enlargement. These data point to defective NSC calcium handling and metabolic activity as one of the pathogenetic mechanisms driving CH.

INSTRUMENT(S): LTQ Orbitrap Velos

ORGANISM(S): Homo Sapiens (human)

SUBMITTER: Fiorella Andrea Solari  

LAB HEAD: Albert Sickmann

PROVIDER: PXD047897 | Pride | 2024-08-09

REPOSITORIES: Pride

Dataset's files

Source:
Action DRS
F026439.dat Other
Pulldown_empty_A1.mgf Mgf
Velos022384_PD_empty.raw Raw
Velos022385_PD_A1.raw Raw
checksum.txt Txt
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Publications

Dysregulation of FLVCR1a-dependent mitochondrial calcium handling in neural progenitors causes congenital hydrocephalus.

Bertino Francesca F   Mukherjee Dibyanti D   Bonora Massimo M   Bagowski Christoph C   Nardelli Jeannette J   Metani Livia L   Zanin Venturini Diletta Isabella DI   Chianese Diego D   Santander Nicolas N   Salaroglio Iris Chiara IC   Hentschel Andreas A   Quarta Elisa E   Genova Tullio T   McKinney Arpana Arjun AA   Allocco Anna Lucia AL   Fiorito Veronica V   Petrillo Sara S   Ammirata Giorgia G   De Giorgio Francesco F   Dennis Evan E   Allington Garrett G   Maier Felicitas F   Shoukier Moneef M   Gloning Karl-Philipp KP   Munaron Luca L   Mussano Federico F   Salsano Ettore E   Pareyson Davide D   di Rocco Maja M   Altruda Fiorella F   Panagiotakos Georgia G   Kahle Kristopher T KT   Gressens Pierre P   Riganti Chiara C   Pinton Paolo P PP   Roos Andreas A   Arnold Thomas T   Tolosano Emanuela E   Chiabrando Deborah D  

Cell reports. Medicine 20240701 7


Congenital hydrocephalus (CH), occurring in approximately 1/1,000 live births, represents an important clinical challenge due to the limited knowledge of underlying molecular mechanisms. The discovery of novel CH genes is thus essential to shed light on the intricate processes responsible for ventricular dilatation in CH. Here, we identify FLVCR1 (feline leukemia virus subgroup C receptor 1) as a gene responsible for a severe form of CH in humans and mice. Mechanistically, our data reveal that t  ...[more]

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