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Bardet-Biedl syndrome proteins regulate intracellular signaling and neuronal function in patient-spe...

Bardet-Biedl syndrome proteins regulate intracellular signaling and neuronal function in patient-spe...

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_8262481

Bardet-Biedl syndrome proteins regulate intracellular signaling and neuronal function in patient-specific iPSC-derived neurons

About this item

Full title

Bardet-Biedl syndrome proteins regulate intracellular signaling and neuronal function in patient-specific iPSC-derived neurons

Publisher

United States: American Society for Clinical Investigation

Journal title

The Journal of clinical investigation, 2021-04, Vol.131 (8)

Language

English

Formats

Publication information

Publisher

United States: American Society for Clinical Investigation

More information

Scope and Contents

Contents

Bardet-Biedl syndrome (BBS) is a rare autosomal recessive disorder caused by mutations in genes encoding components of the primary cilium and is characterized by hyperphagic obesity. To investigate the molecular basis of obesity in human BBS, we developed a cellular model of BBS using induced pluripotent stem cell-derived (iPSC-derived) hypothalami...

Alternative Titles

Full title

Bardet-Biedl syndrome proteins regulate intracellular signaling and neuronal function in patient-specific iPSC-derived neurons

Identifiers

Primary Identifiers

Record Identifier

TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_8262481

Permalink

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_8262481

Other Identifiers

ISSN

0021-9738

E-ISSN

1558-8238

DOI

10.1172/JCI146287

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