The development and application of high-throughput omics technologies have enabled a
more in-depth understanding of mitochondrial biosynthesis metabolism and the …

Introduction The analysis of the role of the mitochondria in oxidative damage and skin aging
has been a significant aspect of dermatological research. Mitochondria generate most …

Amyotrophic lateral sclerosis (ALS) is a fatal disease characterized by aberrant alternative
splicing (AS). Nuclear loss and cytoplasmic accumulation of the splicing factor TDP-43 in …

Hereditary spastic paraplegias (HSPs) comprise a family of degenerative diseases mostly
hitting descending axons of corticospinal neurons. Depending on the gene and mutation …

Biallelic loss of SPG11 function constitutes the most frequent cause of complicated
autosomal recessive hereditary spastic paraplegia (HSP) with thin corpus callosum …

Background: Pathogenic variants in SPG11 cause the most common autosomal recessive
complicated hereditary spastic paraplegia. Besides the prototypical combination of spastic …

Mutations in SPG11, encoding spatacsin, constitute the major cause of autosomal recessive
Hereditary Spastic Paraplegia (HSP) with thinning of the corpus callosum. Previous studies …

Hereditary spastic paraplegia (HSP) is a diverse group of motor neuron disorders that is
characterized by lower-limb weakness and spasticity due to a length-dependent axonopathy …

1.2 Methoden Für diese Studie wurden zwei an SPG11 erkrankte Patienten mit motorischer
Neuropathie und pathogenen Loss-of-function-Varianten im SPG11-Gen und drei …

The Hereditary Spastic Paraplegias (HSPs) are inherited neurological disorders
characterized by progressive spasticity and pyramidal weakness, predominantly in the lower …