Commentary: GM1 ‐Gangliosidosis Type III Associated Parkinsonism

2021 ◽  
Vol 8 (S1) ◽  
Author(s):  
Manju A. Kurian ◽  
Rauan Kaiyrzhanov ◽  
Parvin Allahyarova ◽  
Ulviyya Guliyeva ◽  
Sughra Gulieva ◽  
...  
Keyword(s):  
Gm1 Gangliosidosis ◽  
Type Iii

scholarly journals GM1 Gangliosidosis—A Mini-Review

2021 ◽  
Vol 12 ◽  
Author(s):  
Elena-Raluca Nicoli ◽  
Ida Annunziata ◽  
Alessandra d’Azzo ◽  
Frances M. Platt ◽  
Cynthia J. Tifft ◽  
...  
Keyword(s):  
Mouse Models ◽  
Clinical Symptoms ◽  
Age Of Onset ◽  
Premature Mortality ◽  
Signs And Symptoms ◽  
Type I ◽  
Type Ii ◽  
Lysosomal Storage ◽  
Gm1 Gangliosidosis ◽  
Type Iii

GM1 gangliosidosis is a progressive, neurosomatic, lysosomal storage disorder caused by mutations in the GLB1 gene encoding the enzyme β-galactosidase. Absent or reduced β-galactosidase activity leads to the accumulation of β-linked galactose-containing glycoconjugates including the glycosphingolipid (GSL) GM1-ganglioside in neuronal tissue. GM1-gangliosidosis is classified into three forms [Type I (infantile), Type II (late-infantile and juvenile), and Type III (adult)], based on the age of onset of clinical symptoms, although the disorder is really a continuum that correlates only partially with the levels of residual enzyme activity. Severe neurocognitive decline is a feature of Type I and II disease and is associated with premature mortality. Most of the disease-causing β-galactosidase mutations reported in the literature are clustered in exons 2, 6, 15, and 16 of the GLB1 gene. So far 261 pathogenic variants have been described, missense/nonsense mutations being the most prevalent. There are five mouse models of GM1-gangliosidosis reported in the literature generated using different targeting strategies of the Glb1 murine locus. Individual models differ in terms of age of onset of the clinical, biochemical, and pathological signs and symptoms, and overall lifespan. However, they do share the major abnormalities and neurological symptoms that are characteristic of the most severe forms of GM1-gangliosidosis. These mouse models have been used to study pathogenic mechanisms, to identify biomarkers, and to evaluate therapeutic strategies. Three GLB1 gene therapy trials are currently recruiting Type I and Type II patients (NCT04273269, NCT03952637, and NCT04713475) and Type II and Type III patients are being recruited for a trial utilizing the glucosylceramide synthase inhibitor, venglustat (NCT04221451).

scholarly journals GM1 ‐Gangliosidosis Type III Associated Parkinsonism

2021 ◽  
Vol 8 (S1) ◽  
Author(s):  
Rauan Kaiyrzhanov ◽  
Ulviyya Guliyeva ◽  
Sughra Gulieva ◽  
Kamran Salayev ◽  
Aytan Mursalova ◽  
...  
Keyword(s):  
Gm1 Gangliosidosis ◽  
Type Iii

Type III (chronic) GM1-gangliosidosis

1985 ◽  
Vol 71 (2-3) ◽  
pp. 209-223 ◽  
Author(s):  
Masao Ushiyama ◽  
Shu-ichi Ikeda ◽  
Jun Nakayama ◽  
Nobuo Yanagisawa ◽  
Norinao Hanyu ◽  
...  
Keyword(s):  
Gm1 Gangliosidosis ◽  
Type Iii

scholarly journals Wishbone pattern of iron accumulation: A pathognomonic sign of type III GM1 gangliosidosis

2019 ◽  
Vol 2 (3) ◽  
pp. 134
Author(s):  
PramodK Pal ◽  
Shweta Prasad ◽  
LulupK Sahoo ◽  
Jitender Saini
Keyword(s):  
Iron Accumulation ◽  
Gm1 Gangliosidosis ◽  
Type Iii ◽  
Pathognomonic Sign

Expanding the phenotypic spectrum of type III GM1 gangliosidosis: Progressive dystonia with auditory startle

2018 ◽  
Vol 66 (7) ◽  
pp. 149 ◽  
Author(s):  
Roopa Rajan ◽  
SreejaH Pillai ◽  
Soumya Sundaram ◽  
SyedM Zafer
Keyword(s):  
Gm1 Gangliosidosis ◽  
Type Iii ◽  
Phenotypic Spectrum

Some Observations on Changes in Denervated Taste Buds of Circumvallate Papillae of Rabbits

1969 ◽  
Vol 27 ◽  
pp. 308-309
Author(s):  
Sunao Fujimoto ◽  
Raymond G. Murray ◽  
Assia Murray
Keyword(s):  
Taste Buds ◽  
Taste Bud ◽  
Cell Type ◽  
Dark Cells ◽  
Type Iii ◽  
Circumvallate Papillae ◽  
Taste Bud Cells ◽  
Light Cells

Taste bud cells in circumvallate papillae of rabbit have been classified into three groups: dark cells; light cells; and type III cells. Unilateral section of the 9th nerve distal to the petrosal ganglion was performed in 18 animals, and changes of each cell type in the denervated buds were observed from 6 hours to 10 days after the operation.Degeneration of nerves is evident at 12 hours (Fig. 1) and by 2 days, nerves are completely lacking in the buds. Invasion by leucocytes into the buds is remarkable from 6 to 12 hours but then decreases. Their extrusion through the pore is seen. Shrinkage and disturbance in arrangement of cells in the buds can be seen at 2 days. Degenerated buds consisting of a few irregular cells and remnants of degenerated cells are present at 4 days, but buds apparently normal except for the loss of nerve elements are still present at 6 days.

Methionine-Specific Staining of Collagen

1982 ◽  
Vol 40 ◽  
pp. 294-295
Author(s):  
E.M. Kuhn ◽  
K.D. Marenus ◽  
M. Beer
Keyword(s):  
Amino Acids ◽  
Collagen Fibers ◽  
Type Iii Collagen ◽  
Type I ◽  
Electron Microscopic ◽  
Good Correspondence ◽  
Specific Staining ◽  
Type Iii ◽  
Different Types ◽  
Sulfur Containing

Fibers composed of different types of collagen cannot be differentiated by conventional electron microscopic stains. We are developing staining procedures aimed at identifying collagen fibers of different types.Pt(Gly-L-Met)Cl binds specifically to sulfur-containing amino acids. Different collagens have methionine (met) residues at somewhat different positions. A good correspondence has been reported between known met positions and Pt(GLM) bands in rat Type I SLS (collagen aggregates in which molecules lie adjacent to each other in exact register). We have confirmed this relationship in Type III collagen SLS (Fig. 1).

Labelling of non-A, non-B hepatitis infected chimpanzee hepatocytes with nuclease-gold conjugates

1984 ◽  
Vol 42 ◽  
pp. 250-251
Author(s):  
G. D. Gagne ◽  
M. F. Miller ◽  
D. A. Peterson
Keyword(s):  
Endoplasmic Reticulum ◽  
Experimental Infection ◽  
Uranyl Acetate ◽  
Type I ◽  
Cellular Injury ◽  
Type Ii ◽  
Tubular Structures ◽  
Type Iii ◽  
Type Iv ◽  
Infected Chimpanzee

Experimental infection of chimpanzees with non-A, non-B hepatitis (NANB) or with delta agent hepatitis results in the appearance of characteristic cytoplasmic alterations in the hepatocytes. These alterations include spongelike inclusions (Type I), attached convoluted membranes (Type II), tubular structures (Type III), and microtubular aggregates (Type IV) (Fig. 1). Type I, II and III structures are, by association, believed to be derived from endoplasmic reticulum and may be morphogenetically related. Type IV structures are generally observed free in the cytoplasm but sometimes in the vicinity of type III structures. It is not known whether these structures are somehow involved in the replication and/or assembly of the putative NANB virus or whether they are simply nonspecific responses to cellular injury. When treated with uranyl acetate, type I, II and III structures stain intensely as if they might contain nucleic acids. If these structures do correspond to intermediates in the replication of a virus, one might expect them to contain DNA or RNA and the present study was undertaken to explore this possibility.

103: Incidence and Clinical Characteristics of NIH Type III Prostatitis in a Managed Care Population

2005 ◽  
Vol 173 (4S) ◽  
pp. 28-28 ◽  
Author(s):  
J. Quentin Clemens ◽  
Richard T. Meenan ◽  
Maureen C. O'Keeffe Rosetti ◽  
Sara Y. Gao ◽  
Elizabeth A. Calhoun
Keyword(s):  
Managed Care ◽  
Clinical Characteristics ◽  
Type Iii
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