Publications by authors named "Najwa Anwar"
Highly conserved transport protein particle (TRAPP) complexes regulate subcellular trafficking pathways. Accurate protein trafficking has been increasingly recognized to be critically important for normal development, particularly in the nervous system. Variants in most TRAPP complex subunits have been found to lead to neurodevelopmental disorders with diverse but overlapping phenotypes.
View Article and Find Full Text PDFBackground: Hereditary spastic paraplegias (HSP) are a group of neurodegenerative diseases that present with weakness and stiffness in the lower limb muscles and lead to progressive neurological decline. Bi-allelic loss-of-function variants in genes that encode subunits of the adaptor protein complex 4 (AP-4) lead to complex HSP. This study aimed to identify causative genetic variants in consanguineous families with HSP from Azerbaijan and Pakistan.
View Article and Find Full Text PDFLatent transforming growth factor β (TGFβ)-binding proteins (LTBPs) are microfibril-associated proteins essential for anchoring TGFβ in the extracellular matrix (ECM) as well as for correct assembly of ECM components. Variants in LTBP2, LTBP3, and LTBP4 have been identified in several autosomal recessive Mendelian disorders with skeletal abnormalities with or without impaired development of elastin-rich tissues. Thus far, the human phenotype associated with LTBP1 deficiency has remained enigmatic.
View Article and Find Full Text PDFArticle Synopsis
- Human 4-hydroxyphenylpyruvate dioxygenase-like (HPDL) is an iron-containing non-heme oxygenase linked to various neurological disorders in 34 individuals from 25 families with biallelic HPDL variants.
- These neurological disorders presented as conditions ranging from juvenile-onset spastic paraplegia to infantile-onset spasticity, often accompanied by severe developmental delays and respiratory issues.
- Experiments showed that HPDL is expressed in the nervous system, plays a role in motor function in zebrafish models, and its variants disrupt enzymatic function, suggesting a causative link between HPDL mutations and neurological diseases.
Background: Pathogenic variants of encoding the β subunit of the guanine nucleotide-binding protein cause IDDCA syndrome, an autosomal recessive neurodevelopmental disorder associated with cognitive disability and cardiac arrhythmia, particularly severe bradycardia.
Methods: We used echocardiography and telemetric ECG recordings to investigate consequences of loss in mouse.
Results: We delineated a key role of in heart sinus conduction and showed that -inhibitory signalling is essential for parasympathetic control of heart rate (HR) and maintenance of the sympathovagal balance.