AFG3L2 is a zinc metalloprotease and an ATPase localized in an inner mitochondrial
membrane involved in mitochondrial quality control of several nuclear-and mitochondrial …

Mitochondrial disorders are defined as defects that affect the oxidative phosphorylation
system (OXPHOS). They are characterized by a heterogeneous array of clinical …

Hereditary spastic paraplegia is a neurological condition characterized by predominant
axonal degeneration in long spinal tracts, leading to weakness and spasticity in the lower …

Lipid droplets (LD) are affected in multiple human disorders. These highly dynamic
organelles are involved in many cellular roles. While their intracellular dispersion is crucial …

Background Intranasal olfactory drug delivery provides a non-invasive method that
bypasses the Blood-Brain-Barrier and directly delivers medication to the brain and spinal …

Objective: To identify the genetic defect for adult-onset primary lateral sclerosis (PLS) in a
family with 5 patients. Methods: Whole-exome sequencing was performed to identify the …

AFG3L2 is a zinc metalloprotease and an ATPase localized in an inner mitochondrial
membrane involved in mitochondrial quality control of several nuclear-and mitochondrial …

Mitochondrial proteins alter in their composition and quantity drastically through time and
space in correspondence to changing energy demands and cellular signaling events. The …

Abstract Hereditary Spastic Paraplegia (HSP) is a genetically heterogeneous disorders
associated with different modes of inheritance and multiple loci and disease genes. HSP is …

Hereditary spastic paraplegia (HSP) is an inherited neurodegenerative disease which
affects mainly the upper motor neuron axons in the corticospinal tract. Due to mutations in …