Publications by authors named "F Palau"
Pathogenic variants of GDAP1 cause Charcot-Marie-Tooth disease (CMT), an inherited neuropathy characterized by axonal degeneration. GDAP1, an atypical glutathione S-transferase, localizes to the outer mitochondrial membrane (OMM), regulating this organelle's dynamics, transport, and membrane contact sites (MCSs). It has been proposed that GDAP1 functions as a cellular redox sensor.
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- The IA polymorphism is linked to both the Ankyrin Repeat and Kinase Domain-containing I gene (ANKK1) and the D2 dopamine receptor gene, posing challenges in understanding its role in addictions and psychiatric disorders due to unclear ANKK1 functions.
- Research using SH-SY5Y neuroblastoma models shows that ANKK1 interacts with FARP1, a synapse protein, contributing to neuronal maturation and the activation of the Wnt/PCP pathway while promoting neuritogenesis.
- Interactions between ANKK1 and WGEF are crucial for regulating RhoGTPases during neuronal differentiation, indicating that ANKK1 may play a significant role in organizing the brain's structural response related to IA-associated
Article Synopsis
- A study analyzed 58 individuals with unresolved childhood-onset neuromuscular diseases (NMDs) who previously had inconclusive exome sequencing results, aiming to improve molecular diagnosis.* -
- By using a combination of trio genome sequencing and RNA sequencing, the researchers achieved genetic diagnoses in 40% of the patients, identifying causal variants in most cases.* -
- The findings highlight that integrating detailed patient phenotyping and advanced genomic techniques can enhance diagnostic rates and better manage individuals suffering from NMDs.*
Congenital myopathies (CMs) are rare genetic disorders for which the diagnostic yield does not typically exceed 60% . We performed deep phenotyping, histopathological studies, clinical exome and trio genome sequencing and a phenotype-driven analysis of the genomic data, that led to the molecular diagnosis in a child with CM. We identified a heterozygous variant in RYR1 in the affected child, inherited from her asymptomatic mother.
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