Shohab Youssefian

Kyoto, Japan

Last Updated: 09/26/2026

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Found 19 publications

RNF213 regulates palmitate signaling through AAA+ and RZ-finger domains, a process enhanced by gain-of-function moyamoya disease-associated mutations.

RNF213 regulates palmitate signaling through AAA+ and RZ-finger domains, a process enhanced by gain-of-function moyamoya disease-associated mutations.

Journal: The FEBS journal

Published: April 10, 2026

RNF213-Dependent EGFR and HER2 Activation Regulates Specific Downstream Signaling Pathways in Human Cancer Cells.

RNF213-Dependent EGFR and HER2 Activation Regulates Specific Downstream Signaling Pathways in Human Cancer Cells.

Journal: Genes to cells : devoted to molecular & cellular mechanisms

Published: April 14, 2025

RNF213 Acts as a Molecular Switch for Cav-1 Ubiquitination and Phosphorylation in Human Cells.

RNF213 Acts as a Molecular Switch for Cav-1 Ubiquitination and Phosphorylation in Human Cells.

Journal: Cells

Published: March 20, 2025

Genetic Analysis of SCN11A, SCN10A, and SCN9A in Familial Episodic Pain Syndrome (FEPS) in Japan and Proposal of Clinical Diagnostic Criteria.

Genetic Analysis of SCN11A, SCN10A, and SCN9A in Familial Episodic Pain Syndrome (FEPS) in Japan and Proposal of Clinical Diagnostic Criteria.

Journal: International journal of molecular sciences

Published: April 30, 2024

Familial Episodic Pain Syndrome: A Japanese Family Harboring the Novel Variant c.2431C>T (p.Leu811Phe) in SCN11A.

Familial Episodic Pain Syndrome: A Japanese Family Harboring the Novel Variant c.2431C>T (p.Leu811Phe) in SCN11A.

Journal: Biochemical genetics

Published: April 12, 2024

Reduced pain sensitivity of episodic pain syndrome model mice carrying a Nav1.9 mutation by ANP-230, a novel sodium channel blocker.

Reduced pain sensitivity of episodic pain syndrome model mice carrying a Nav1.9 mutation by ANP-230, a novel sodium channel blocker.

Journal: Heliyon

Published: June 15, 2022

Deletion of 2 amino acids in IHH in a Japanese family with brachydactyly type A1.

Deletion of 2 amino acids in IHH in a Japanese family with brachydactyly type A1.

Journal: BMC medical genomics

Published: September 07, 2020

Mechanical allodynia triggered by cold exposure in mice with the Scn11a p.R222S mutation: a novel model of drug therapy for neuropathic pain related to NaV1.9.

Mechanical allodynia triggered by cold exposure in mice with the Scn11a p.R222S mutation: a novel model of drug therapy for neuropathic pain related to NaV1.9.

Journal: Naunyn-Schmiedeberg's archives of pharmacology

Published: May 18, 2020

Moyamoya disease patient mutations in the RING domain of RNF213 reduce its ubiquitin ligase activity and enhance NFκB activation and apoptosis in an AAA+ domain-dependent manner.

Moyamoya disease patient mutations in the RING domain of RNF213 reduce its ubiquitin ligase activity and enhance NFκB activation and apoptosis in an AAA+ domain-dependent manner.

Journal: Biochemical and biophysical research communications

Published: January 19, 2020

Familial episodic limb pain in kindreds with novel Nav1.9 mutations.

Familial episodic limb pain in kindreds with novel Nav1.9 mutations.

Journal: PloS one

Published: July 04, 2018

Rare variants in RNF213, a susceptibility gene for moyamoya disease, are found in patients with pulmonary hypertension and aggravate hypoxia-induced pulmonary hypertension in mice.

Rare variants in RNF213, a susceptibility gene for moyamoya disease, are found in patients with pulmonary hypertension and aggravate hypoxia-induced pulmonary hypertension in mice.

Journal: Pulmonary circulation

Published: May 03, 2018

Dysregulation of RNF213 promotes cerebral hypoperfusion.

Dysregulation of RNF213 promotes cerebral hypoperfusion.

Journal: Scientific reports

Published: November 28, 2017

Showing 1-12 of 19

Last Updated: 09/26/2026