[HTML][HTML] The Warburg micro syndrome protein RAB3GAP1 modulates neuronal morphogenesis and interacts with axon elongation end ER-Golgi trafficking factors
PS Ghate, JM Vacharasin, JA Ward, D Nowling… - Neurobiology of …, 2023 - Elsevier
RAB3GAP1 is GTPase activating protein localized to the ER and Golgi compartments. In
humans, mutations in RAB3GAP1 are the most common cause of Warburg Micro syndrome …
humans, mutations in RAB3GAP1 are the most common cause of Warburg Micro syndrome …
Revealing the functions of novel mutations in RAB3GAP1 in Martsolf and Warburg micro syndromes
Purpose: Martsolf (MS) and Warburg micro syndromes (WARBM) are rare autosomal
recessive inherited allelic disorders, which share similar clinical features including …
recessive inherited allelic disorders, which share similar clinical features including …
Martsolf syndrome with novel mutation in the TBC1D20 gene in a family from Iran
H Hozhabri, M Talebi, MYV Mehrjardi… - American Journal of …, 2020 - Wiley Online Library
Abstract Warburg Micro syndrome and Martsolf syndrome are phenotypically overlapping
autosomal recessive conditions characterized by multiple organ abnormalities involving the …
autosomal recessive conditions characterized by multiple organ abnormalities involving the …
[HTML][HTML] Novel RAB3GAP1 mutation in the first Tunisian family with Warburg Micro syndrome
N Kerkeni, M Kharrat, F Maazoul… - Journal of Clinical …, 2022 - ncbi.nlm.nih.gov
Background and Purpose Warburg Micro syndrome (WARBM) is a rare autosomal recessive
genetic disease characterized by ocular, neurologic, and endocrine anomalies. WARBM is a …
genetic disease characterized by ocular, neurologic, and endocrine anomalies. WARBM is a …