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Golgi apparatus regulation of differentiation
Published in C. Yan Cheng, Spermatogenesis, 2018
Louis Hermo, Regiana L. Oliveira, Charles E. Smith, Catherine E. Au, John J. M. Bergeron
Another similar distribution pattern (Figure 1.24a) exists for the renewed onset of expression of ManIIX from steps 15–19 (Figure 1.24b) with the coincident expression of atlastin 3 (functioning in tubular ER network formation) (Figures 1.24c and d), β-COP, ERP57, and RAB14 at these same steps of differentiation. A rationale for these coincidences of expression patterns is still unknown but indicates a partnership between non-Golgi and Golgi proteins.
Neurogenetics
Published in John W. Scadding, Nicholas A. Losseff, Clinical Neurology, 2011
Sonia Gandhi, Sarah Tabrizi, Nicholas Wood
The second most common cause of autosomal dominant HSP (∼10 per cent of cases) is mutation in the SPG3A gene encoding the protein atlastin. This gives rise to an earlier childhood onset spastic paraparesis, often with a benign course. Mutations in the REEP1 gene (SPG31) underlie 8 per cent of cases of autosomal dominant HSP.
Exome sequencing of a Pakistani family with spastic paraplegia identified an 18 bp deletion in the cytochrome B5 domain of FA2H
Published in Neurological Research, 2021
Safdar Abbas, Beatrice Brugger, Muhammad Zubair, Sana Gul, Jasmin Blatterer, Julian Wenninger, Khurram Rehman, Benjamin Tatrai, Muzammil Ahmad Khan, Christian Windpassinger
HSP follows different modes of inheritance such as autosomal dominant, autosomal recessive and X-linked, indicating a detailed phenotypical characterization as a critical step prior to molecular analysis [3, 9]. To date, more than 70 chromosomal loci have been linked to HSP [1, 10–12], in which autosomal dominant HSP accounts for about 38% of cases and autosomal recessive accounts for 53% of cases [13]. Physiologically, the HSP proteins have various functions such as (i) axon transport (e.g., KIF1A and KIF5A), (ii) morphologic role in endoplasmic reticulum (e.g., Atlastin, Spastin and reticulon 2), (iii) physiologic role in mitochondria (e.g., chaperonin 60/heat-shock protein 60, paraplegin and mitochondrial ATP6), (iv) synthesis of myelin (e.g., Proteolipid protein and Connexin 47), (v) protein folding and ER-stress response (e.g., NIPA1, K1AA0196 (Strumpellin), and BSCL2 (Seipin), (vi) corticospinal tract and other neuronal development (e.g., cell adhesion molecule and thyroid transporter MCT8), (vii) fatty acid and phospholipid metabolism (e.g., DDHD1, FA2H, NTE, and CYP2U1); and (viii) endosome membrane trafficking and vesicle formation (e.g., AP4B1, KIAA0415, AP4M1, and AP4E) [see 14,for details]. The clinical heterogeneity of HSP greatly reflects the contribution of diverse cellular pathways in disease pathogenesis [5, 8, 15, 16].