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Spastic paraplegia 51: phenotypic spectrum related to novel homozygous AP4E1 mutation
AP-4-associated hereditary spastic paraplegia (HSP), also known as AP-4 deficiency syndrome, is a genetically diverse group of neurologic disorders...
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DDHD2, whose mutations cause spastic paraplegia type 54, enhances lipophagy via engaging ATG8 family proteins
Hereditary spastic paraplegia (HSP) is a group of inherited neurodegenerative disorders characterized by progressive lower limb spasticity and...
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FBXL17/spastin axis as a novel therapeutic target of hereditary spastic paraplegia
BackgroundSpastin significantly influences microtubule regulation in neurons and is implicated in the pathogenesis of hereditary spastic paraplegia...
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MYO1H is a novel candidate gene for autosomal dominant pure hereditary spastic paraplegia
In this study, we aimed to determine the genetic basis of a Turkish family related to hereditary spastic paraplegia (HSP) by exome sequencing. HSP is...
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AP4B1-associated hereditary spastic paraplegia: expansion of phenotypic spectrum related to homozygous p.Thr387fs variant
Biallelic mutations in the AP4B1 gene, encoding adaptor-related protein complex 4 beta-1 subunit, have been recognized as an important cause of a...
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Application of a custom NGS gene panel revealed a high diagnostic utility for molecular testing of hereditary ataxias
Hereditary ataxias (HA) are a rare group of heterogeneous disorders. Here, we present the results of molecular testing of a group of ataxia patients...
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Transcriptomic characterization of tissues from patients and subsequent pathway analyses reveal biological pathways that are implicated in spastic ataxia
BackgroundSpastic ataxias (SAs) encompass a group of rare and severe neurodegenerative diseases, characterized by an overlap between ataxia and...
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Hereditary spastic paraplegia associated with a rare IFIH1 mutation: a case report and literature review
Here, the pathogenesis of an IFIH1 gene mutation is discussed through the analysis of a sporadic case of hereditary spastic paraplegia....
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The Troyer syndrome protein spartin mediates selective autophagy of lipid droplets
Lipid droplets (LDs) are crucial organelles for energy storage and lipid homeostasis. Autophagy of LDs is an important pathway for their catabolism,...
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NGS-driven molecular diagnosis of heterogeneous hereditary neurological disorders reveals novel and known variants in disease-causing genes
Hereditary neurological disorders (HNDs) are a clinically and genetically heterogeneous group of disorders. These disorders arise from the impaired...
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Molecular Genetic Diversity and DNA Diagnostics of Hereditary Spastic Paraplegia
Abstract —Hereditary spastic paraplegia (HSP) is a heterogeneous group of neurodegenerative disorders predominantly characterized by damage to the...
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Hedgehog pathway is negatively regulated during the development of Drosophila melanogaster PheRS-m (Drosophila homologs gene of human FARS2) mutants
Hereditary spastic paraplegia (HSP) is a neurodegeneration disease, one of the reasons is caused by autosomal recessive missense mutation of the...
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Neuropathy-associated Fars2 deficiency affects neuronal development and potentiates neuronal apoptosis by impairing mitochondrial function
BackgroundNeurodegenerative diseases encompass an extensive and heterogeneous group of nervous system disorders which are characterized by...
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RelCurator: a text mining-based curation system for extracting gene–phenotype relationships specific to neurodegenerative disorders
BackgroundThe identification of gene–phenotype relationships is important in medical genetics as it serves as a basis for precision medicine....
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Atlastine — wie defekte Netzwerke Neuropathien verursachen
The Atlastins (ATLs) mesh the tubular net that constitutes the peripheral parts of the endoplasmic reticulum (ER), the largest membranous organelle...
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Drosophila Atlastin regulates synaptic vesicle mobilization independent of bone morphogenetic protein signaling
BackgroundThe endoplasmic reticulum (ER) contacts endosomes in all parts of a motor neuron, including the axon and presynaptic terminal, to move...
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Novel c.C2254T (p.Q752*) mutation in ZFYVE26 (SPG15) gene in a patient with hereditary spastic paraparesis
Hereditary spastic paraplegias are clinically and genetically heterogeneous degenerative disorders, and pathological variants in the autosomal...
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“At last in” the physiological roles of the tubular ER network
In eukaryotic cells, the endoplasmic reticulum (ER) forms a continuous network of tubules and sheets. ER membranes are inter-connected by a class of...
