De novo in-frame deletions and duplications in the SPTAN1 gene, encoding the non-erythrocyte
αII spectrin, have been associated with severe West syndrome with hypomyelination …

… Velho and Harms have contributed equally to this work. … Velho and Harms have
contributed equally to this work. … Velho and Harms have contributed equally to this work. …

From a GeneMatcher-enabled international collaboration, we identified ten individuals
affected by intellectual disability, speech delay, ataxia, and facial dysmorphism and carrying a …

The mannose receptor (MR) is an endocytic receptor involved in serum homeostasis and
antigen presentation. Here, we identify the MR as a direct regulator of CD8 + T-cell activity. We …

p21-activated kinases (PAKs) are serine/threonine protein kinases acting as effectors of
CDC42 and RAC, which are members of the RHO family of small GTPases. PAK1's kinase …

Members of the AAA+ superfamily of ATPases are involved in the unfolding of proteins and
disassembly of protein complexes and aggregates. ATAD1 encoding the ATPase family, AAA…

Dysfunction of the endolysosomal system is often associated with neurodegenerative
disease because postmitotic neurons are particularly reliant on the elimination of intracellular …

Background Increasing evidence links genetic defects affecting actin-regulatory proteins to
diseases with severe autoimmunity and autoinflammation, yet the underlying molecular …

Purpose The SF3B splicing complex is composed of SF3B1-6 and PHF5A. We report a
developmental disorder caused by de novo variants in PHF5A. Methods Clinical, genomic, and …

The MCM2-7 helicase is a heterohexameric complex with essential roles as part of both the
pre-replication and pre-initiation complexes in the early stages of DNA replication. Meier-…