Dewi N. Astuti

Birmingham, ENG, United Kingdom

Last Updated: 09/26/2026

Save publications for later
Sign Up
Not sure about your diagnosis?
Check Your Symptoms
Found 12 publications

Sodium valproate, a potential repurposed treatment for the neurodegeneration in Wolfram syndrome (TREATWOLFRAM): trial protocol for a pivotal multicentre, randomised double-blind controlled trial.

Sodium valproate, a potential repurposed treatment for the neurodegeneration in Wolfram syndrome (TREATWOLFRAM): trial protocol for a pivotal multicentre, randomised double-blind controlled trial.

Journal: BMJ open
Published: February 26, 2025

Utilization of Primary Health Care Under National Health Insurance in Samarinda Municipality, East Kalimantan Province, Indonesia.

Utilization of Primary Health Care Under National Health Insurance in Samarinda Municipality, East Kalimantan Province, Indonesia.

Journal: Journal of multidisciplinary healthcare
Published: October 30, 2023

Analysis of autophagy deficiency and cytotoxicity in autophagy-deficient human embryonic stem cell-derived neurons.

Analysis of autophagy deficiency and cytotoxicity in autophagy-deficient human embryonic stem cell-derived neurons.

Journal: STAR protocols
Published: April 26, 2023

Depletion of WFS1 compromises mitochondrial function in hiPSC-derived neuronal models of Wolfram syndrome.

Depletion of WFS1 compromises mitochondrial function in hiPSC-derived neuronal models of Wolfram syndrome.

Journal: Stem cell reports
Published: July 26, 2022

NAD depletion mediates cytotoxicity in human neurons with autophagy deficiency.

NAD depletion mediates cytotoxicity in human neurons with autophagy deficiency.

Journal: Cell reports
Published: March 03, 2022

De novo mutations in children born after medical assisted reproduction.

De novo mutations in children born after medical assisted reproduction.

Journal: Human reproduction (Oxford, England)
Published: November 30, 2021

WFS1 protein expression correlates with clinical progression of optic atrophy in patients with Wolfram syndrome.

WFS1 protein expression correlates with clinical progression of optic atrophy in patients with Wolfram syndrome.

Journal: Journal of medical genetics
Published: June 10, 2020

Monogenic diabetes syndromes: Locus-specific databases for Alström, Wolfram, and Thiamine-responsive megaloblastic anemia.

Monogenic diabetes syndromes: Locus-specific databases for Alström, Wolfram, and Thiamine-responsive megaloblastic anemia.

Journal: Human mutation
Published: October 14, 2016

Sarco(endo)plasmic reticulum ATPase is a molecular partner of Wolfram syndrome 1 protein, which negatively regulates its expression.

Sarco(endo)plasmic reticulum ATPase is a molecular partner of Wolfram syndrome 1 protein, which negatively regulates its expression.

Journal: Human molecular genetics
Published: October 03, 2014

Perlman syndrome: overgrowth, Wilms tumor predisposition and DIS3L2.

Perlman syndrome: overgrowth, Wilms tumor predisposition and DIS3L2.

Journal: American journal of medical genetics. Part C, Seminars in medical genetics
Published: April 25, 2013

Vacuolar-type H+-ATPase V1A subunit is a molecular partner of Wolfram syndrome 1 (WFS1) protein, which regulates its expression and stability.

Vacuolar-type H+-ATPase V1A subunit is a molecular partner of Wolfram syndrome 1 (WFS1) protein, which regulates its expression and stability.

Journal: Human molecular genetics
Published: October 05, 2012

Identification of homozygous WFS1 mutations (p.Asp211Asn, p.Gln486*) causing severe Wolfram syndrome and first report of male fertility.

Identification of homozygous WFS1 mutations (p.Asp211Asn, p.Gln486*) causing severe Wolfram syndrome and first report of male fertility.

Journal: European journal of human genetics : EJHG
Published: July 12, 2012
Showing 1-12 of 12

Last Updated: 09/26/2026