Membrane trafficking pathways are essential for the viability and growth of cells, and play a
major role in the interaction of cells with their environment. In this At a Glance article and …

Cortical/cerebral visual impairment (CVI) is the most frequent cause of pediatric visual
impairment in developed countries and is increasing in prevalence in develo** nations …

We have identified 200 congenital disorders of glycosylation (CDG) caused by 189 different
gene defects and have proposed a classification system for CDG based on the mode of …

Protein coding mutations in leucine‐rich repeat kinase 2 (LRRK2) cause familial Parkinson's
disease (PD), and noncoding variations around the gene increase the risk of develo** …

The cerebellum is one of the best studied parts of the brain. The cerebellar cortex is
composed of four main types of neurons: granule cells, Purkinje cells, and two types of …

Mutations in Leucine-rich repeat kinase 2 (LRRK2) cause Parkinson's disease (PD).
However, the precise function of LRRK2 remains unclear. We report an interaction between …

Pontocerebellar hypoplasias (PCH) represent a heterogeneous group of very rare disorders
with reduced volume of pons and cerebellum. The term is purely descriptive and does not …

Hereditary spastic paraplegia (HSP) refers to a group of neurological disorders involving the
degeneration of motor neurons. Due to their clinical and genetic heterogeneity, finding …

Cohen Syndrome (CS) is a rare autosomal recessive disorder caused by biallelic mutations
in the VPS13B gene. It is characterized by multiple clinical features, including acquired …

The Golgi associated retrograde protein complex (GARP) is an evolutionarily conserved
component of Golgi membrane trafficking machinery that belongs to the Complexes …