BRENDA - Reference to 3.1.2.22; Id = 707922

medicine

if patients are diagnosed with any type of mental and/or physical retardation accompanied by strong and severe visual impairment, then the case physician may consider the possibility of infantile neuronal ceroid lipofuscinosis and conduct an examination of PPT activity level

Homo sapiens

-

lymphocyte

-

Homo sapiens

-

4-methylumbelliferyl-6-thiopalmitoyl-beta-D-glucoside + H2O

-

707922

Homo sapiens

?

-

?

medicine

if patients are diagnosed with any type of mental and/or physical retardation accompanied by strong and severe visual impairment, then the case physician may consider the possibility of infantile neuronal ceroid lipofuscinosis and conduct an examination of PPT activity level

Homo sapiens

lymphocyte

-

Homo sapiens

-

4-methylumbelliferyl-6-thiopalmitoyl-beta-D-glucoside + H2O

-

707922

Homo sapiens

?

-

?

malfunction

first case of infantile neuronal ceroid lipofuscinosis in 37 month old Japanese boy diagnosed by enzyme activity deficiency of palmitoyl-protein thioesterase, displaying symptoms of severe deterioration beginning in his 14th month

Homo sapiens

malfunction

first case of infantile neuronal ceroid lipofuscinosis in 37 month old Japanese boy diagnosed by enzyme activity deficiency of palmitoyl-protein thioesterase, displaying symptoms of severe deterioration beginning in his 14th month

Homo sapiens

729768

Aby

Mutations in palmitoyl-protein ...

Drosophila melanogaster

Fly

7

267-279

2014

-

1

-

2

-

4

-

2

-

1

-

2

-

2

-

1

-

730430

Liu

Palmitoyl-protein thioesterase ...

Rattus norvegicus

Mol. Reprod. Dev.

81

55-65

2014

-

1

-

2

-

3

-

1

-

3

-

1

-

1

-

730399

Hu

Intravenous high-dose enzyme r ...

Mus musculus

Mol. Genet. Metab.

107

213-221

2012

-

1

-

1

-

4

-

2

-

1

-

1

-

2

-

1

-

709975

Lu

Human recombinant palmitoyl-pr ...

Homo sapiens

Mol. Genet. Metab.

99

374-378

2010

-

1

-

4

-

1

-

2

-

1

-

1

-

1

-

2

-

1

-

1

-

710070

Saja

Identifying cellular pathways ...

Drosophila melanogaster, Drosophila sp. (in: Insecta)

Neurobiol. Dis.

40

135-145

2010

1

-

2

-

4

-

1

-

3

-

3

-

2

-

1

-

2

-

4

-

1

-

3

-

2

-

2

-

716234

Sanders

A mutation in canine PPT1 caus ...

Canis lupus familiaris

Mol. Genet. Metab.

100

349-356

2010

-

3

-

1

-

1

-

1

-

1

-

1

-

716683

Chu-LaGraff

The Batten disease Palmitoyl P ...

Drosophila melanogaster

PLoS ONE

5

e14402

2010

-

1

-

4

-

1

-

1

-

707548

Hirano

Thioesterase activity and subc ...

Homo sapiens

Biochim. Biophys. Acta

1791

797-805

2009

-

1

-

1

-

2

1

-

2

-

1

-

2

1

2

1

-

1

-

2

-

1

-

1

-

2

1

-

1

-

2

1

2

1

-

1

-

707557

Tardy

Palmitoyl protein thioesterase ...

Homo sapiens, Mus musculus

Biochim. Biophys. Acta

1793

1250-1258

2009

-

1

-

4

-

2

-

2

-

1

-

2

-

2

-

4

-

708433

Macauley

Cerebellar pathology and motor ...

Mus musculus

Exp. Neurol.

217

124-135

2009

-

2

-

2

-

2

-

1

-

692414

Bannan

The Drosophila protein palmito ...

Drosophila melanogaster

Fly

2

198-214

2008

-

1

-

1

-

2

-

1

-

1

-

1

-

1

-

693353

Kim

Palmitoyl protein thioesterase ...

Homo sapiens, Mus musculus

J. Clin. Invest.

118

3075-3086

2008

-

1

-

6

-

4

-

4

-

4

-

4

-

1

-

6

-

4

-

4

-

4

-

707922

Takano

Infantile neuronal ceroid lipo ...

Homo sapiens

Brain Dev.

30

370-373

2008

-

1

-

2

-

1

-

1

-

1

-

1

-

1

-

1

-

678930

Lyly

Glycosylation, transport, and ...

Homo sapiens

BMC Cell Biol.

8

22

2007

-

4

-

1

-

1

-

1

-

1

-

4

-

1

-

1

-

1

-

680026

Buff

Genetic modifiers of Drosophil ...

Drosophila sp. (in: Insecta)

Genetics

176

209-220

2007

-

1

-

4

-

1

-

1

-

1

-

664616

Kohan

Palmitoyl protein thioesterase ...

Homo sapiens

Clin. Biochem.

38

492-494

2005

-

1

-

1

-

1

-

1

-

1

-

665136

Zhang

Palmitoyl-protein thioesterase ...

Mus musculus

Hum. Mol. Genet.

15

337-346

2005

-

1

-

3

-

1

-

1

-

1

-

666135

Porter

Identification and characteriz ...

Caenorhabditis elegans

J. Neurosci. Res.

79

836-848

2005

-

1

-

4

-

1

-

1

-

1

-

651030

Cho

pdf1, a palmitoyl protein thio ...

Schizosaccharomyces pombe

Eukaryot. Cell

3

302-310

2004

-

1

-

1

-

1

-

2

1

-

5

-

1

-

1

-

2

1

-

1

-

1

-

1

-

2

1

-

1

-

2

1

-

650862

Lukacs

Rapid and simple assay for the ...

Homo sapiens

Clin. Chem.

49

509-512

2003

-

1

-

1

-

1

-

1

-

1

-

3

1

-

3

-

1

-

1

-

1

-

1

-

1

-

3

1

-

3

-

1

-

1

-

652459

Calero

The crystal structure of palmi ...

Homo sapiens

J. Biol. Chem.

278

37957-37964

2003

-

1

-

1

-

1

-

2

-

1

-

6

-

1

-

1

-

1

-

1

-

1

-

1

-

6

-

1

-

652624

Ahtiainen

Palmitoyl protein thioesterase ...

Mus musculus

J. Comp. Neurol.

455

368-377

2003

-

3

-

1

-

1

-

1

-

6

-

2

-

3

-

1

-

6

-

2

-

650368

Lu

The effects of lysosomotropic ...

Homo sapiens

Biochim. Biophys. Acta

1583

35-44

2002

-

2

-

1

-

1

-

2

-

1

-

2

-

2

-

2

-

1

-

1

-

2

-

2

-

653345

Suopanki

Status epilepticus induces cha ...

Rattus norvegicus

Neurobiol. Dis.

10

247-257

2002

-

3

-

1

-

4

-

1

-

1

-

3

-

2

1

-

3

-

1

-

1

-

3

-

2

1

-

651450

Das

Biochemical analysis of mutati ...

Homo sapiens

Hum. Mol. Genet.

10

1431-1439

2001

-

1

-

12

-

2

-

1

-

3

-

1

-

1

-

1

2

-

4

-

1

-

12

-

2

-

1

-

1

-

1

2

-

4

-

651451

Lehtovirta

Palmitoyl protein thioesterase ...

Homo sapiens, Mus musculus

Hum. Mol. Genet.

10

69-75

2001

-

2

-

4

-

1

2

-

3

-

2

-

6

-

4

1

-

2

-

4

-

1

2

-

6

-

4

1

-

653226

Salonen

Neuronal trafficking of palmit ...

Homo sapiens

Mol. Cell. Neurosci.

18

131-140

2001

-

1

-

3

-

1

-

3

-

1

-

1

-

2

-

1

-

3

-

1

-

1

-

2

-

651455

Waliany

Identification of three novel ...

Homo sapiens

Hum. Mutat.

15

206-207

2000

-

1

-

7

-

1

-

2

-

1

-

2

-

2

-

1

-

7

-

1

-

2

-

2

-

651456

Salonen

Detection of eight novel palmi ...

Homo sapiens

Hum. Mutat.

15

273-279

2000

-

1

-

1

-

2

-

1

-

2

-

1

-

1

-

2

-

653651

Bellizzi

The crystal structure of palmi ...

Homo sapiens

Proc. Natl. Acad. Sci. USA

97

4573-4578

2000

-

1

12

-

1

-

1

-

1

-

1

-

1

-

2

-

1

-

1

12

-

1

-

1

-

1

-

2

-

653243

Suopanki

The expression of palmitoyl-pr ...

Rattus norvegicus

Mol. Genet. Metab.

66

290-293

1999

-

1

-

2

-

1

-

8

-

2

-

1

-

8

-

2

-

653360

Suopanki

Palmitoyl-protein thioesterase ...

Rattus norvegicus

Neurosci. Lett.

265

53-56

1999

-

1

-

1

-

2

-

1

-

10

-

2

-

1

-

1

-

10

-

2

-

23910

Cho

Enzymatic and molecular biolog ...

Homo sapiens

J. Neurochem.

71

323-329

1998

-

1

-

1

-

2

-

5

-

1

-

1

-

1

-

1

-

5

-

1

-

1

-

23920

Meng

The antiproliferative agent di ...

Homo sapiens

Biochemistry

37

10488-10492

1998

-

1

-

1

-

2

-

3

-

1

-

1

-

1

-

3

-

23919

Michel

The role of palmitoyl-protein ...

Bos taurus

FEBS Lett.

405

356-362

1997

-

1

-

1

-

1

-

1

-

2

-

1

-

1

-

1

-

2

-

23911

Hellsten

Human palmitoyl protein thioes ...

Homo sapiens

EMBO J.

15

5240-5245

1996

-

1

-

3

-

1

-

2

-

1

-

1

-

2

-

1

-

3

-

1

-

1

-

1

-

2

-

23913

Schriner

cDNA and genomic cloning of hu ...

Homo sapiens

Genomics

34

317-4322

1996

-

1

-

2

-

1

-

4

-

1

-

1

-

1

-

4

-

1

-

23914

Verkruyse

Lysosomal targeting of palmito ...

Homo sapiens

J. Biol. Chem.

271

15831-15836

1996

-

1

-

1

-

2

-

2

-

1

-

2

-

2

-

23917

Slea

Rat brain contains high levels ...

Rattus norvegicus

J. Biol. Chem.

271

19191-19198

1996

-

1

-

2

-

1

-

3

-

1

-

1

-

1

-

3

-

1

-

23918

Lu

Lipid thioesters derived from ...

Homo sapiens

Proc. Natl. Acad. Sci. USA

93

10046-10050

1996

-

1

-

2

-

2

-

3

-

1

-

2

-

3

-

23912

Vesa

Mutations in the palmitoyl pro ...

Homo sapiens

Nature

376

584-587

1995

-

1

-

2

-

1

-

1

-

1

-

1

-

1

-

23915

Camp

Assay and isolation of palmito ...

Bos taurus

Methods Enzymol.

250

336-347

1995

-

1

-

1

-

2

-

1

-

2

1

2

-

1

-

1

-

1

-

1

-

2

1

2

-

23916

Camp

Purification and properties of ...

Bos taurus

J. Biol. Chem.

268

22566-22574

1993

-

3

2

-

1

-

2

-

1

-

1

-

4

1

-

3

-

2

-

1

-

1

-

1

-

4

1

-

Infantile neuronal ceroid lipofuscinosis: The first reported case in Japan diagnosed by palmitoyl-protein thioesterase enzyme activity deficiency

Data extracted from this reference: