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The respiratory system is the most common system to be affected and the complications are the leading cause of death in SMA types 0/1 and 2. SMA type 3 can have similar respiratory problems, but it is more rare. [24] Complications arise due to weakened intercostal muscles because of the lack of stimulation from the nerve.
Prenatal onset, characterised by severe muscle wasting, respiratory and feeding failure, and bone fractures at birth as in arthrogryposis multiplex congenita, usually fatal in infancy [2] [3] [4] PCH: Spinal muscular atrophy with pontocerebellar hypoplasia (SMA-PCH) Pontocerebellar hypoplasia type 1A (PCH1A) 607596: VRK1: 14q32: Autosomal dominant
Continuous ventilation, however, may in itself cause damage to the anatomy of the lungs. [2] In addition to diaphragmatic paralysis, other issues may arise: as the name suggests, the distal limbs are most affected with symptoms of weakness, [3] restricting mobility due to (near-)paralysis of the distal limbs as well as the head and neck. [3]
The DNA repair function of alpha-synuclein appears to be compromised in Lewy body inclusion bearing neurons, and this may trigger cell death. Study of synucleinopathy mouse models of Parkinson's disease indicates that alpha-synuclein pathogenesis is associated with increased DNA damage and activation of the DNA damage response. [19]
AP-2 complex subunit alpha-1 is a protein that in humans is encoded by the AP2A1 gene. [5] This gene encodes the alpha 1 adaptin subunit of the adaptor protein 2 (AP2 adaptors) complex found in clathrin coated vesicles. The AP-2 complex is a heterotetramer consisting of two large adaptins (alpha or beta), a medium adaptin (mu), and a small ...
1277 12842 Ensembl ENSG00000108821 ENSMUSG00000001506 UniProt P02452 P11087 RefSeq (mRNA) NM_000088 NM_007742 RefSeq (protein) NP_000079 NP_031768 Location (UCSC) Chr 17: 50.18 – 50.2 Mb Chr 11: 94.83 – 94.84 Mb PubMed search Wikidata View/Edit Human View/Edit Mouse Collagen, type I, alpha 1, also known as alpha-1 type I collagen, is a protein that in humans is encoded by the COL1A1 gene ...
Balaji Sadasivan (/ ˈ b ɑː l ə dʒ iː s ɑː d ə ˈ s iː v ə n / or / ˈ b æ-s æ-/; 11 July 1955 – 27 September 2010) was a Singaporean politician and neurosurgeon.He attended Raffles Institution, Siglap Secondary School and National Junior College, and studied medicine at the University of Singapore.
5'-AMP-activated protein kinase catalytic subunit alpha-1 is an enzyme that in humans is encoded by the PRKAA1 gene. [5] [6] The protein encoded by this gene belongs to the serine/threonine protein kinase family. It is the catalytic subunit of the 5'-prime-AMP-activated protein kinase . AMPK is a cellular energy sensor conserved in all ...