Additional three patients with Smith‐McCort dysplasia due to novel <i>RAB33B</i> mutations

Salian, Smrithi; Cho, Tae-Joon; Phadke, Shubha R.; Gowrishankar, Kalpana; Shukla, Anju; Jagadeesh, Sujatha; Kim, Ok Hwa; Nishimura, Gen; Girisha, Katta M.

doi:10.1002/ajmg.a.38064

Cited by 18 publications

(15 citation statements)

References 19 publications

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“…Recent studies reported mutations of RAB33B in human patients with Smith–McCort dysplasia 23–25 . Smith-McCort dysplasia is a skeletal dysplasia characterized by a short neck and short trunk dwarfism with a barrel-shaped chest and rhizomelic limb shortening.…”

Section: Discussionmentioning

confidence: 99%

“…Rab33b interacts with Golgi proteins such as GM130, rabaptin-5 and rabex-5 21 , and modulates autophagosome formation by interacting with Atg16L 22 . In addition, mutations in human RAB33B are found in patients with an autosomal recessive skeletal dysplasia, Smith–McCort dysplasia 23–25 . In zebrafish, three rab33 genes, rab33a , rab33ba and rab33bb , have been identified 26 .…”

Section: Introductionmentioning

confidence: 99%

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Rab33a and Rab33ba mediate the outgrowth of forebrain commissural axons in the zebrafish brain

Huang

Urasaki

Inagaki

2019

Sci Rep

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Rab small GTPases play key roles in intracellular membrane trafficking. Rab33a promotes axon outgrowth of cultured rat hippocampal neurons by mediating the anterograde axonal transport of Golgi-derived vesicles and the concomitant exocytosis of these vesicles at the growth cone. However, the functions of Rab33 in vivo are unclear. Here, we show that zebrafish rab33a and rab33ba are orthologs of mammalian Rab33a and Rab33b, respectively. They are expressed in the developing brain, including in neurons of the telencephalic dorsorostral cluster and the diencephalic ventrorostral cluster, which project axons to form the anterior and postoptic commissures, respectively. Although rab33a single mutant and rab33ba single mutant fish did not show remarkable defects, fish carrying the rab33a;rab33ba double mutations displayed dysgenesis of the anterior and postoptic commissures. Single-cell labeling in the telencephalic dorsorostral cluster demonstrated that the rab33a;rab33ba double mutation inhibits axonal extension in the anterior commissure. These results suggest that Rab33a and Rab33ba mediate axon outgrowth and the formation of the forebrain commissures in the zebrafish brain in a cooperative manner.

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Section: Discussionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Rab33a and Rab33ba mediate the outgrowth of forebrain commissural axons in the zebrafish brain

Huang

Urasaki

Inagaki

2019

Sci Rep

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“…Rab39B, a neuronal-specific protein, is a novel Rab GTPase that localizes to the Golgi and is related to synapse formation. Mutations in the Rab33B coding gene cause Smith-McCort dysplasia (121) and mutations in the Rab39B gene cause X-linked mental retardation (122).…”

Section: Mutant Golgi Resident Proteins Involved In Diseasementioning

confidence: 99%

The role of the Golgi apparatus in disease (Review)

Liu

Huang

et al. 2021

Int J Mol Med

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The Golgi apparatus is known to underpin many important cellular homeostatic functions, including trafficking, sorting and modifications of proteins or lipids. These functions are dysregulated in neurodegenerative diseases, cancer, infectious diseases and cardiovascular diseases, and the number of disease-related genes associated with Golgi apparatus is on the increase. Recently, many studies have suggested that the mutations in the genes encoding Golgi resident proteins can trigger the occurrence of diseases. By summarizing the pathogenesis of these genetic diseases, it was found that most of these diseases have defects in membrane trafficking. Such defects typically result in mislocalization of proteins, impaired glycosylation of proteins, and the accumulation of undegraded proteins. In the present review, we aim to understand the patterns of mutations in the genes encoding Golgi resident proteins and decipher the interplay between Golgi resident proteins and membrane trafficking pathway in cells. Furthermore, the detection of Golgi resident protein in human serum samples has the potential to be used as a diagnostic tool for diseases, and its central role in membrane trafficking pathways provides possible targets for disease therapy. Thus, we also introduced the clinical value of Golgi apparatus in the present review.

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“…Mutations in RAB33B have been associated with a rare autosomal recessive spondylo-epi-metaphyseal disorder, SMC [98,99,100]. Patients with SMC present skeletal deformities consisting of marked short stature, barrel-shaped chest, disproportional length of the proximal limb, a combination of both outward and lateral curvature of the spine and small pelvis with slipped capital femoral epiphysis [101].…”

Section: Disease and Future Perspectivesmentioning

confidence: 99%

Multitasking Rab Proteins in Autophagy and Membrane Trafficking: A Focus on Rab33b

Morgan

Cutrona

Simpson

2019

IJMS

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Autophagy (particularly macroautophagy) is a bulk degradation process used by eukaryotic cells in order to maintain adequate energy levels and cellular homeostasis through the delivery of long-lived proteins and organelles to the lysosome, resulting in their degradation. It is becoming increasingly clear that many of the molecular requirements to fulfil autophagy intersect with those of conventional and unconventional membrane trafficking pathways. Of particular interest is the dependence of these processes on multiple members of the Rab family of small GTP binding proteins. Rab33b is a protein that localises to the Golgi apparatus and has suggested functions in both membrane trafficking and autophagic processes. Interestingly, mutations in the RAB33B gene have been reported to cause the severe skeletal disorder, Smith–McCort Dysplasia; however, the molecular basis for Rab33b in this disorder remains to be determined. In this review, we focus on the current knowledge of the participation of Rab33b and its interacting partners in membrane trafficking and macroautophagy, and speculate on how its function, and dysfunction, may contribute to human disease.

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Additional three patients with Smith‐McCort dysplasia due to novel RAB33B mutations

Cited by 18 publications

References 19 publications

Rab33a and Rab33ba mediate the outgrowth of forebrain commissural axons in the zebrafish brain

Rab33a and Rab33ba mediate the outgrowth of forebrain commissural axons in the zebrafish brain

The role of the Golgi apparatus in disease (Review)

Multitasking Rab Proteins in Autophagy and Membrane Trafficking: A Focus on Rab33b

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