Nine Collomb

Unprocessed U1 snRNAs as a biomarker of INTS11- and BRAT1-related neurodevelopmental disorders

Beatrice Valtorta, Zuzana Poláčková, Reza Maroofian, Aveeva Herold et autres

BACKGROUND: Disrupted RNA processing is increasingly recognized as a key driver of severe neurodevelopmental disorders. Variants in the Integrator catalytic subunit INTS11 and its binding partner BRAT1 lead to clinically overlapping phenotypes, yet only the molecular function of INTS11 has been relatively …

cz, ru, gb, ca, Égypte, es, de, no, tr, us, nl, fr, ps, it, ch (code pays fourni par la source)

Unprocessed U1 snRNAs as a biomarker of INTS11- and BRAT1-related neurodevelopmental disorders.

Beatrice Valtorta, Zuzana Poláčková, Reza Maroofian, Aveeva Herold et autres

Background Disrupted RNA processing is increasingly recognized as a key driver of severe neurodevelopmental disorders. Variants in the Integrator catalytic subunit INTS11 and its binding partner BRAT1 lead to clinically overlapping phenotypes, yet only the molecular function of INTS11 has been relatively …

Additional file 1 of Unprocessed U1 snRNAs as a biomarker of INTS11- and BRAT1-related neurodevelopmental disorders

Beatrice Valtorta, Zuzana Poláčková, Reza Maroofian, Aveeva Herold et autres

Additional file 1. Supplementary figures: Fig. S1: Clinical overview and variants of INTS11-mutated patients. Fig. S2: Clinical overview and variants of BRAT1-mutated patients. Fig S3. Affected splicing in patients with INTS11 intronic mutations. Fig. S4: 3’-end processing of U2 snRNAs in INTS11- …

cz, ru, gb, ca, Égypte, es, de, no, tr, us, nl, fr, ps, it, ch (code pays fourni par la source)

Additional file 1 of Unprocessed U1 snRNAs as a biomarker of INTS11- and BRAT1-related neurodevelopmental disorders

Beatrice Valtorta, Zuzana Poláčková, Reza Maroofian, Aveeva Herold et autres

Additional file 1. Supplementary figures: Fig. S1: Clinical overview and variants of INTS11-mutated patients. Fig. S2: Clinical overview and variants of BRAT1-mutated patients. Fig S3. Affected splicing in patients with INTS11 intronic mutations. Fig. S4: 3’-end processing of U2 snRNAs in INTS11- …

cz, ru, gb, ca, Égypte, es, de, no, tr, us, nl, fr, ps, it, ch (code pays fourni par la source)

Unprocessed U1 snRNAs as a biomarker of INTS11- and BRAT1-related neurodevelopmental disorders

Beatrice Valtorta, Zuzana Poláčková, Reza Maroofian, Aveeva Herold et autres

Abstract Background Disrupted RNA processing is increasingly recognized as a key driver of severe neurodevelopmental disorders. Variants in the Integrator catalytic subunit INTS11 and its binding partner BRAT1 lead to clinically overlapping phenotypes, yet only the molecular function of INTS11 has been …

cz, ru, gb, ca, Égypte, es, de, no, tr, us, nl, fr, ps, it, ch (code pays fourni par la source)

Unprocessed U1 snRNAs as a biomarker of INTS11- and BRAT1-related neurodevelopmental disorders

Beatrice Valtorta, Zuzana Poláčková, Reza Maroofian, Aveeva Herold et autres

Abstract Background Disrupted RNA processing is increasingly recognized as a key driver of severe neurodevelopmental disorders. Variants in the Integrator catalytic subunit INTS11 and its binding partner BRAT1 lead to clinically overlapping phenotypes, yet only the molecular function of INTS11 has been …

cz, ru, gb, ca, Égypte, es, de, no, tr, us, nl, fr, ps, it, ch (code pays fourni par la source)

Additional file 2 of Unprocessed U1 snRNAs as a biomarker of INTS11- and BRAT1-related neurodevelopmental disorders

Beatrice Valtorta, Zuzana Poláčková, Reza Maroofian, Aveeva Herold et autres

Additional file 2. Uncropped blots and electrophoretic gels: Related to Fig. 3: Uncropped western blots for evaluation of INTS11, INTS9 and INTS4 protein levels in INTS11-mutated patients. Related to Fig. 6: Uncropped western blots for evaluation of BRAT1, INTS11, INTS9 and INTS4 …

cz, ru, gb, ca, Égypte, es, de, no, tr, us, nl, fr, ps, it, ch (code pays fourni par la source)

Additional file 2 of Unprocessed U1 snRNAs as a biomarker of INTS11- and BRAT1-related neurodevelopmental disorders

Beatrice Valtorta, Zuzana Poláčková, Reza Maroofian, Aveeva Herold et autres

Additional file 2. Uncropped blots and electrophoretic gels: Related to Fig. 3: Uncropped western blots for evaluation of INTS11, INTS9 and INTS4 protein levels in INTS11-mutated patients. Related to Fig. 6: Uncropped western blots for evaluation of BRAT1, INTS11, INTS9 and INTS4 …

cz, ru, gb, ca, Égypte, es, de, no, tr, us, nl, fr, ps, it, ch (code pays fourni par la source)

Modulation des transporteurs à la glycine comme piste thérapeutique pour l’encéphalopathie glycinique chez un modèle de poisson-zèbre

Nine Collomb

L'encéphalopathie glycinique (EG) est une maladie métabolique génétique rare, caractérisée par une accumulation de glycine dans le corps, entraînant des symptômes très sévères. Dans 75 % des cas, cette maladie est due à des mutations du gène GLDC, codant pour la glycine …